name: Charcot-Marie-Tooth disease, dominant intermediate G


myoclonus, familial, 2

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

description: Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.


pyruvate kinase hyperactivity

description: Autosomal dominant phenotype characterized by increase of red blood cell ATP.


name: autosomal dominant nocturnal frontal lobe epilepsy 1

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.


autosomal dominant titinopathy

description: Autosomal dominant form of TTN-related myopathy.


fibroepithelial polyp

description: A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.


AA amyloidosis, Sumatran tiger

description: AA amyloidosis that occurs in Sumatran tiger.


galactosialidosis

description: A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.


osteopetrosis, ass

description: Osteopetrosis that occurs in ass.


name: blepharophimosis-ptosis-epicanthus inversus syndrome plus


name: severe combined immunodeficiency due to CARD11 deficiency

description: Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.


paramedian nasal cleft

description: Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.


EYS-related retinopathy

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


name: ichthyosis, X-linked, without steroid sulfatase deficiency


fournier gangrene

description: An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.


name: benign infantile focal epilepsy with midline spikes and wave during sleep

description: Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.


Woodhouse-Sakati syndrome

description: Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.


pneumothorax, domestic cat

description: Pneumothorax that occurs in domestic cat.


hyperparathyroidism, horse

description: Hyperparathyroidism that occurs in horse.


pili bifurcati

description: Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.


name: peroxisome biogenesis disorder due to PEX14 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.


name: maternal uniparental disomy of chromosome 14

description: Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).


name: autosomal recessive limb-girdle muscular dystrophy type 2R1

description: An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.


phakomatosis pigmentokeratotica

description: Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.


intellectual disability, X-linked 91

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.


encephalomyelitis, enzootic porcine

description: A picornavirus infection producing symptoms similar to poliomyelitis in pigs.


name: congenital absence of both forearm and hand, unilateral

description: Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved.


epilepsy, rabbit

description: Epilepsy that occurs in rabbit.


spinocerebellar ataxia type 4

description: Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.


Trichomonas tenax infectious disease

description: An disease or disorder caused by infection with Trichomonas tenax.


name: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

description: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.


glossopharyngeal nerve neoplasm

description: A neoplasm involving a glossopharyngeal nerve.


pseudohypoaldosteronism type 1

description: Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.


retinitis pigmentosa 56

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.


immunodeficiency, common variable, 10

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.


ring chromosome 2

description: Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).


holoprosencephaly 11

description: Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.


angioid streaks of choroid

description: A angioid streaks that involves the optic choroid.


tertiary syphilis

description: A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).


benign neoplasm of cerebrum

description: A benign neoplasm that involves the telencephalon.


isolated optic nerve aplasia

description: A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.


foramen magnum meningioma

description: A meningioma that affects the foramen magnum.


name: Leber hereditary optic neuropathy, autosomal recessive


name: peroxisome biogenesis disorder due to PEX5 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.


name: neurodevelopmental disorder with speech impairment and with or without seizures


name: pyruvate kinase deficiency of erythrocyte, dog

description: Pyruvate kinase deficiency of erythrocyte that occurs in dog.


supraglottis neoplasm

description: A benign or malignant neoplasm that affects the supraglottic area of the larynx.


acquired metabolic disease

description: An instance of metabolic disease that is acquired during the lifetime of the individual.


name: developmental and epileptic encephalopathy, 50

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the CAD gene, encoding CAD protein.


mitochondrial DNA depletion syndrome 8a

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.


oculodentodigital dysplasia

description: Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.


name: hereditary progressive mucinous histiocytosis

description: Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.


name: spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis


lameness, non-human animal

description: A departure from the normal gait in animals.


name: taurodontia-absent teeth-sparse hair syndrome

description: This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.


urinary bladder tuberculosis

description: A tuberculosis that involves the urinary bladder.


lingual goiter

description: Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.


Coronaviridae infectious disease

description: Virus diseases caused by coronaviridae.


primary ciliary dyskinesia 15

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.


GATA1-Related X-Linked Cytopenia

description: X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.


name: partial trisomy of the long arm of chromosome 5

description: Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. 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 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.


Perrault syndrome 4

description: Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.


name: xeroderma pigmentosum, type G/Cockayne syndrome


ABri amyloidosis

description: A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.


atopic dermatitis, non-human animal

description: Atopic dermatitis that occurs in non-human animals.


hereditary epidermal appendage anomaly

description: An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.


description: X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.


name: hemophagocytic lymphohistiocytosis due to RhoG deficiency

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.


hyperekplexia 1

description: A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.


name: mitochondrial complex 1 deficiency, nuclear type 31


trimethylaminuria (fishy taint), cattle

description: Trimethylaminuria (fishy taint) that occurs in cattle.


febrile seizures, familial, 8

description: A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.


microphthalmia, non-human animal

description: Microphthalmia that occurs in non-human animals.


name: mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy


name: leukoencephalopathy, hereditary diffuse, with spheroids


name: developmental and epileptic encephalopathy, 34

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.


name: leukodystrophy, hypomyelinating, 19, transient infantile


name: cerebral amyloid angiopathy, APP-related

description: A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.


name: intellectual developmental disorder, autosomal recessive 78


intellectual disability, X-linked 45

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene.


bone angiosarcoma

description: A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.


vestibulocochlear nerve neoplasm

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


uterine inversion

description: A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.


name: mitochondrial DNA depletion syndrome, encephalomyopathic form

description: Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.


name: polycystic kidney disease, Western roe deer

description: Polycystic kidney disease that occurs in Western roe deer.


name: microcephaly 17, primary, autosomal recessive

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


name: rhizomelic chondrodysplasia punctata type 1

description: A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.


mink viral enteritis

description: A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route.


prepuce cancer

description: A malignant neoplasm involving the prepuce.


torsion dystonia 6

description: Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.


name: autosomal recessive nonsyndromic hearing loss 84B

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


name: intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

description: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterized by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.


name: developmental and epileptic encephalopathy, 68


sporadic Creutzfeld Jacob disease

description: Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.


ACys amyloidosis

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.


late-adult onset retinitis pigmentosa

description: A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.


Meckel syndrome, type 10

description: Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.


name: porokeratotic eccrine ostial and dermal duct nevus

description: A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.


nephrolithiasis, non-human animal

description: Nephrolithiasis that occurs in non-human animals.


name: corpus callosum dysgenesis X-linked recessive


description: Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.


immunodeficiency 105

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


Stankiewicz-Isidor syndrome

description: A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.


name: mitochondrial DNA depletion syndrome 20 (mngie type)


description: Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene.


description: An embryonal rhabdomyosarcoma located in the parameningeal region.


photosensitive occipital lobe epilepsy

description: A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.


name: myoclonic epilepsy in non-progressive encephalopathies

description: A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.


Verloove Vanhorick-Brubakk syndrome

description: Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.


chronic mast cell leukemia

description: A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.


name: microphthalmia with brain and digit anomalies

description: Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

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


distal trisomy 3p

description: Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.


cone-rod dystrophy 3

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.


lower lip fistula

description: A cysts and fistulae of the face and oral cavity that involves the lower lip.


Seckel syndrome 10

description: Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.


name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

description: Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.


folinic acid-responsive seizures

description: Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.


name: hypothyroidism, congenital, nongoitrous, 8


name: erythroleukemia, familial, susceptibility to

description: An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene.


erythema infectiosum

description: A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern.


name: inborn disorder of ornithine, proline and hydroxyproline metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.


hereditary renal hypouricemia

description: Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).


name: spondyloepiphyseal dysplasia, Kimberley type

description: Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.


name: univentricular heart with single atrio-ventricular valve


autosomal dominant Robinow syndrome 1

description: Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.


name: cerebellar ataxia and hypergonadotropic hypogonadism


name: developmental and epileptic encephalopathy, 26

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.


AREDYLD syndrome

description: AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.


name: autoinflammatory syndrome, familial, X-linked, Behcet-like 2


name: autosomal recessive spastic paraplegia type 66


choroidal dystrophy, central areolar 2

description: Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.


retinitis pigmentosa 39

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.


name: congenital disorder of glycosylation, type IIy


hereditary disease, non-human animal

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


melanocytic skin neoplasm

description: A melanocytic neoplasm that involves the zone of skin.


disorder of orbital region

description: A disease that involves the orbital region.


name: disease related to transplantation, non-human animal

description: Disease related to transplantation that occurs in non-human animals.


diprosopus, cattle

description: Diprosopus that occurs in cattle.


sialidosis

description: Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.


bacterial exanthem

description: A bacteria-induced exanthem


retinitis pigmentosa 76

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.


name: pituitary hormone deficiency, combined, 2

description: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.


nephrotic syndrome, non-human animal

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


methemoglobinemia type 4

description: Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.


beta-ureidopropionase deficiency

description: Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).


name: chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation


fetal minoxidil syndrome

description: Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.


name: congenital cerebellar ataxia due to RNU12 mutation

description: A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.


eclampsia, non-human animal

description: Eclampsia that occurs in non-human animals.


facial dermoid cyst

description: Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.


microtia, pig

description: Microtia that occurs in pig.


tooth agenesis, selective, 4

description: Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.


Bowen-Conradi syndrome

description: Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.


myoclonus, cattle

description: Myoclonus that occurs in cattle.


RLBP1-related retinopathy

description: A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.


alopecia areata, non-human animal

description: Alopecia areata that occurs in non-human animals.


von Willebrand disease type 2M

description: A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.


name: rhizomelic chondrodysplasia punctata type 5

description: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.


description: An electroclinical syndrome with onset in adolescence and adulthood.


aspergillus niger infection

description: A infectious disease involving the Aspergillus niger.


name: neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures


name: mesomelic dwarfism-cleft palate-camptodactyly syndrome

description: Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.


name: developmental and epileptic encephalopathy, 74


oculootodental syndrome

description: Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.


name: hypertelorism, microtia, facial clefting syndrome

description: Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.


name: digestive system disorder, non-human animal

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


actinic lichen planus

description: Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.


congenital myasthenic syndrome 15

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.


name: neurodevelopmental disorder with impaired language and ataxia and with or without seizures


inflammatory liposarcoma

description: A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.


grange syndrome

description: Grange syndrome is characterized by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.


Warburg micro syndrome 4

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.


Usher syndrome type 1J

description: Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.


posterior cranial fossa meningioma

description: A meningioma that affects the posterior cranial fossa.


hereditary sebaceous gland anomaly

description: An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.


disorder of visual system

description: A disease that involves the visual system.


overhydrated hereditary stomatocytosis

description: Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.


congenital pericardium anomaly

description: Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).


renal hypomagnesemia 3

description: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.


anosmia, isolated congenital, X-linked

description: X-linked form of anosmia, isolated congenital.


name: posterior polymorphous corneal dystrophy 3

description: Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.


name: developmental and epileptic encephalopathy 113


vesicoureteral reflux 3

description: Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.


name: Ehlers-Danlos syndrome, fibronectinemic type

description: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.


46,XX sex reversal 1

description: Presence of testes in an individual with a 46,XX karyotype associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein (SRY-positive).


Seckel syndrome 8

description: Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.


medulloblastoma non-WNT/non-SHH

description: A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.


pulmonary hypertension, primary, 2

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.


thrombocytopenia, horse

description: Thrombocytopenia that occurs in horse.


cerebellar degeneration, dog

description: Cerebellar degeneration that occurs in dog.


name: epidermolysis bullosa simplex 2A, generalized severe


atrial septal defect 4

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.


epilepsy, Mongolian gerbil

description: Epilepsy that occurs in Mongolian gerbil.


name: ALG14-congenital disorder of glycosylation

description: Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins.


name: TMEM165-congenital disorder of glycosylation

description: TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).


primary coenzyme Q10 deficiency 8

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.


wound botulism

description: Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.


name: thanatophoric dysplasia, Glasgow variant


name: autosomal recessive nonsyndromic hearing loss 17

description: An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.


name: nemaline myopathy 5C, autosomal dominant


Charlie M syndrome

description: Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.


name: striatal degeneration, autosomal dominant 2

description: Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.


Usher syndrome type 1C

description: A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.


pityriasis lichenoides

description: A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).


atopic dermatitis, dog

description: Atopic dermatitis that occurs in dog.


milker's nodule

description: Virus diseases caused by the poxviridae.


congenital primary megaureter

description: An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.


myopathy, chicken

description: Myopathy that occurs in chicken.


glottis cancer

description: A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.


acquired purpura fulminans

description: A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.


name: idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance


clonorchiasis

description: Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)


Zimmermann-Laband syndrome 1

description: Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.


name: neuronopathy, distal hereditary motor, autosomal recessive 4

description: A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.


name: Charcot-Marie-Tooth disease, Guadalajara neuronal type


name: partial duplication of the short arm of chromosome 7

description: Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. 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 7p 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.


name: essential hypertension, non-human animal

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


ureterolithiasis

description: The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.


name: neurodegeneration with brain iron accumulation 2B


atelosteogenesis type III

description: A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.


name: intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency


viral eye infection

description: Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.


14q32 duplication syndrome

description: 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.


name: inherited hematologic cancer-predisposing syndrome


name: mitochondrial non-syndromic sensorineural hearing loss


name: alacrima, congenital, autosomal recessive


name: inclusion body myopathy and brain white matter abnormalities


name: neurodevelopmental disorder with language delay and seizures


gingival fibroepithelial polyp

description: A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.


name: autosomal dominant nonsyndromic hearing loss 25

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.


pontocerebellar hypoplasia type 2E

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.


myeloschisis

description: A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation.


female urethral cancer

description: A cancer that involves the female urethra.


myopia, non-human animal

description: Myopia that occurs in non-human animals.


GM1 gangliosidosis type 3

description: GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.


name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

description: A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.


name: childhood-onset Steinert myotonic dystrophy


tetralogy of fallot, horse

description: Tetralogy of fallot that occurs in horse.


name: hereditary lethal multiple congenital anomalies/dysmorphic syndrome

description: An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.


name: hyperphosphatasia with intellectual disability syndrome 4

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.


name: Polymerase proofreading-related adenomatous polyposis


name: neurodevelopmental disorder with hypotonia, microcephaly, and seizures


name: qualitative or quantitative defects of plectin


immunodeficiency 25

description: Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.


name: preaxial polydactyly-colobomata-intellectual disability syndrome

description: Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.


name: polycystic kidney disease, non-human animal

description: Polycystic kidney disease that occurs in non-human animals.


name: macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome


name: mitochondrial complex 4 deficiency, nuclear type 8


name: atypical dentin dysplasia due to SMOC2 deficiency


name: autosomal recessive nonsyndromic hearing loss 101

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.


Joubert syndrome 28

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


non-cutaneous melanoma

description: Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)


name: vitamin K-dependent clotting factors, combined deficiency of, type 2

description: Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.


Pick disease

description: A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.


ventricular septal defect, rabbit

description: Ventricular septal defect that occurs in rabbit.


name: colobomatous microphthalmia-rhizomelic dysplasia syndrome

description: Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.


familial hypoparathyroidism

description: A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.


rhizomelic syndrome, Urbach type

description: Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.


retinitis pigmentosa 48

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.


Morgagni cataract

description: A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.


name: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). It results in eosinophilia.


name: trimethylaminuria (fishy taint), mallard

description: Trimethylaminuria (fishy taint) that occurs in mallard.


description: Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.


internal carotid agenesis

description: Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography.


Barber-Say syndrome

description: Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.


spondylocarpotarsal synostosis syndrome

description: Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.


chronic dacryoadenitis

description: Chronic form of dacryoadenitis.


name: chromosome 1, uniparental disomy 1q12 q21


name: Charcot-Marie-Tooth disease recessive intermediate D

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.


bathing suit ichthyosis

description: Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.


name: neuronopathy, distal hereditary motor, type 5B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.


focal facial dermal dysplasia type II

description: Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.


name: developmental and epileptic encephalopathy, 82


celiac trunk compression syndrome

description: A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.


name: disorder of galactose and fructose metabolism

description: An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.


premature ovarian failure 5

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


RDH12-related recessive retinopathy

description: A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.


name: combined oxidative phosphorylation defect type 15

description: Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.


name: bleeding diathesis due to thromboxane synthesis deficiency

description: A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).


Alzheimer disease 8

description: An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.


synovium cancer

description: A cancer that involves the layer of synovial tissue.


WAGR syndrome

description: WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.


Freiberg disease

description: Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.


anterior urethra cancer

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


name: erythrokeratodermia variabilis et progressiva 7


name: neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures


name: mitochondrial complex 4 deficiency, nuclear type 3


benign mixed tumor of the vulva

description: A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.


GPR143-related foveal hypoplasia

description: Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene.


retinitis pigmentosa 23

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.


Bardet-Biedl syndrome 5

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.


name: intellectual developmental disorder, autosomal dominant 73


adrenal medulla cancer

description: A malignant neoplasm involving the adrenal medulla


amyotrophic lateral sclerosis type 18

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.


osteogenesis imperfecta type 16

description: An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.


name: mitochondrial complex 1 deficiency, nuclear type 10


acute disease, non-human animal

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


nonsyndromic congenital nail disorder 3

description: Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.


renal agenesis, domestic cat

description: Renal agenesis that occurs in domestic cat.


monogenic alpha thalassemia spectrum

description: An instance of alpha thalessemia spectrum that is caused by an inherited monogenomic modification in an individual.


pericardial effusion, chronic

description: Chronic form of pericardial effusion (disease).


childhood gonadal germ cell tumor

description: A germ cell tumor that arises from the testis or ovary and occurs during childhood.


auditory agnosia

description: An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.


primary ciliary dyskinesia 27

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.


paraneoplastic neurologic syndrome

description: A paraneoplastic syndrome that involves the nervous system.


name: SBDS-related severe neonatal spondylometaphyseal dysplasia


physiological sexual disorder

description: Physiological disturbances in normal sexual performance in either the male or the female.


name: congenital pseudoarthrosis of the radius


name: mitochondrial complex 1 deficiency, nuclear type 24


name: round cell sarcoma with EWSR1-non-ETS fusion

description: A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.


name: primitive neuroectodermal tumor of the cervix uteri

description: Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfunctional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.


name: non-syndromic anorectal malformation with rectourethral fistula, bulbar type


description: Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.


name: benign peritoneal solitary fibrous tumor

description: A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.


Weill-Marchesani syndrome 2, dominant

description: A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.


name: intellectual disability, autosomal recessive 43

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.


atrial fibrillation, familial, 11

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.


Wilson disease, cattle

description: Wilson disease that occurs in cattle.


Yunis-Varon syndrome

description: Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.


name: maternal uniparental disomy of chromosome 16


name: developmental defect during embryogenesis, non-human animal

description: Developmental defect during embryogenesis that occurs in non-human animals.


epilepsy-telangiectasia syndrome

description: Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.


name: metaphyseal chondrodysplasia, Spahr type


coloboma, dog

description: Coloboma that occurs in dog.


gonococcal spondylitis

description: An spondylitis caused by infection with Neisseria gonorrhoeae.


name: autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain


encephalocraniocutaneous lipomatosis

description: A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.


rabies

description: Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.


name: imperforate oropharynx-costo vetebral anomalies syndrome

description: Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.


Seckel syndrome 7

description: Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.


T-B+ severe combined immunodeficiency

description: T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.


poult enteritis mortality syndrome

description: An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections.


cranial neuralgia

description: A neuralgia that involves the cranial neuron projection bundle.


name: developmental and epileptic encephalopathy, 80


enterovirus infectious disease

description: An disease caused by infection with Enterovirus.


name: myopathy, myofibrillar, 9, with early respiratory failure


name: short stature-craniofacial anomalies-genital hypoplasia syndrome

description: Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.


Joubert syndrome 15

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.


BCOR ITD sarcoma

description: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.


Meckel diverticulum, horse

description: Meckel diverticulum that occurs in horse.


name: lethal congenital contracture syndrome 2

description: Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.


advanced sleep phase syndrome 3

description: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.


name: blepharophimosis - intellectual disability syndrome, MKB type

description: The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.


name: malignant peritoneal solitary fibrous tumor

description: A malignant form of peritoneal solitary fibrous tumor.


name: autoimmune lymphoproliferative syndrome, non-human animal

description: Autoimmune lymphoproliferative syndrome that occurs in non-human animals.


name: severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

description: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.


name: short-rib thoracic dysplasia 8 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.


name: facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome


name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

description: An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.


name: neurodevelopmental disorder with hypotonia, neuropathy, and deafness


Keutel syndrome

description: Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.


name: congenital disorder of glycosylation, type Ibb


infectious myxomatosis

description: A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties.


familial porencephaly

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


name: hepatic encephalopathy, non-human animal

description: Hepatic encephalopathy that occurs in non-human animals.


name: mitochondrial DNA depletion syndrome, hepatocerebral form


hookworm infectious disease

description: Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.


variant ABeta2M amyloidosis

description: A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.


ehrlichiosis, non-human animal

description: Ehrlichiosis that occurs in non-human animals.


early congenital syphilis

description: A congenital syphilis that is manifested between 0 and 2 years old.


muscular dystrophy, chicken

description: Muscular dystrophy that occurs in chicken.


name: combined oxidative phosphorylation defect type 17

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.


Doyne honeycomb retinal dystrophy

description: Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.


trigonocephaly 2

description: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.


spermatogenic failure 12

description: Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.


name: helicoid peripapillary chorioretinal degeneration

description: Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.


trisomy 10p

description: Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies

description: A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).


intellectual disability, X-linked 19

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.


name: combined oxidative phosphorylation deficiency 45


immunodeficiency 67

description: An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.


Gaisbock syndrome

description: Polycythemia that is caused by stress.


CPOX-related hereditary coproporphyria

description: Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.


name: phosphoenolpyruvate carboxykinase deficiency, mitochondrial


name: atypical Fanconi syndrome-neonatal hyperinsulinism syndrome


medulloblastoma non-WNT/non-SHH group 4

description: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present.


description: An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5


urolithiasis, Dusky leaf-monkey

description: Urolithiasis that occurs in Dusky leaf-monkey.


name: hypercarotenemia and vitamin A deficiency, autosomal recessive


plantar nerve lesion

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


null syndrome

description: The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.


name: Bietti crystalline corneoretinal dystrophy

description: Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.


hereditary spastic paraplegia 11

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.


D-glyceric aciduria

description: A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.


hypotrichosis simplex

description: Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.


osteogenesis imperfecta, type 19

description: An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia.


trachea leiomyoma

description: A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


name: coloboma of macula-brachydactyly type B syndrome

description: Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.


dilated cardiomyopathy, cattle

description: Dilated cardiomyopathy that occurs in cattle.


accessory tricuspid valve tissue

description: Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.


retinitis pigmentosa, pig

description: Retinitis pigmentosa that occurs in pig.


thinking seizures

description: Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.


name: neurodevelopmental disorder with hypotonia and seizures


glycine metabolism disease

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


Charcot-Marie-Tooth disease type 2B2

description: Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.


name: epidermolysis bullosa simplex 2F, with mottled pigmentation

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.


microphthalmia, Eastern wapiti

description: Microphthalmia that occurs in Eastern wapiti.


acral persistent papular mucinosis

description: Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.


name: Tay-Sachs disease, b variant, juvenile form


name: microcephaly-cardiac defect-lung malsegmentation syndrome

description: Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.


scalp-ear-nipple syndrome

description: Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.


central nervous system AIDS arteritis

description: Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.


D,L-2-hydroxyglutaric aciduria

description: D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.


name: Charcot-Marie-Tooth disease, demyelinating, IIA 1I


name: autosomal recessive spastic paraplegia type 76

description: Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.


congenital hypothyroidism, dog

description: Congenital hypothyroidism that occurs in dog.


spinal muscular atrophy, dog

description: Spinal muscular atrophy that occurs in dog.


name: cortical dysplasia, complex, with other brain malformations 11


allergic contact dermatitis of eyelid

description: A allergic contact dermatitis that involves the eyelid.


name: fatty acid hydroxylase-associated neurodegeneration

description: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.


name: isolated congenital hypogonadotropic hypogonadism

description: A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.


name: hereditary disorder of connective tissue

description: An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.


epidural abscess

description: Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)


name: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome


inherited sideroblastic anemia

description: An inherited form of sideroblastic anemia.


atherosclerosis, rock pigeon

description: Atherosclerosis that occurs in rock pigeon.


name: developmental and epileptic encephalopathy, 42

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.


name: Yersinia enterocolitica infectious disease


name: symptomatic form of hemophilia A in female carriers

description: A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.


name: neurodegeneration with brain iron accumulation 7


Colorado tick fever

description: A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni.


name: neuropathy, congenital hypomyelinating, 3


myopathy caused by variation in POMGNT1

description: Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.


name: peroxisomal single enzyme/protein defect

description: Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.


name: autosomal recessive nonsyndromic hearing loss 35

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


distal myopathy, Tateyama type

description: Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.


mite infestation

description: Infestations with arthropods of the subclass acari, superorder Acariformes.


anterior segment dysgenesis 7

description: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.


vector-borne disease, non-human animal

description: Vector-borne disease that occurs in non-human animals.


name: non-syndromic non-specific multisutural craniosynostosis


infectious ectromelia

description: A viral infection of mice, causing edema and necrosis followed by limb loss.


hereditary spastic paraplegia 74

description: Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.


osteosarcoma, non-human animal

description: Osteosarcoma that occurs in non-human animals.


name: inborn disorder of methionine cycle and sulfur amino acid metabolism

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


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.


name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A


name: short-rib thoracic dysplasia 17 with or without polydactyly


vertebral joint disorder

description: A disease that involves the intervertebral joint.


infectious epithelial keratitis

description: Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.


erythrokeratoderma en cocardes

description: Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterized by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.


formiminoglutamic aciduria

description: Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.


accessory nerve disorder

description: A disease involving the accessory XI nerve.


chromosome 15q26-qter deletion syndrome

description: Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.


immunoglobulin A deficiency 2

description: Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.


Meckel syndrome, type 1

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


brain small vessel disease 3

description: An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.


name: combined oxidative phosphorylation deficiency 47


name: basal ganglia calcification, idiopathic, childhood-onset


name: spastic paraplegia 88, autosomal dominant


Drachtman Weinblatt Sitarz syndrome

description: A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.


uterine corpus sarcoma

description: A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.


rheumatic pulmonary valve disease

description: A rheumatologic disorder that involves the pulmonary valve.


name: immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein


cleft lip and alveolus

description: Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.


name: neurodevelopmental disorder with cerebellar atrophy and with or without seizures


ring chromosome disorder

description: Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.