helminthiasis, animal

description: Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.


PHGDH deficiency

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

description: 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form


arthrogryposis IUGR thoracic dystrophy

description: A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia.


fibular hemimelia

description: Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.


Erysipelothrix infectious disease

description: Infections with bacteria of the genus erysipelothrix.


nail anomaly

description: A epidermal appendage anomaly that involves the nail.


pyruvate carboxylase deficiency disease

description: Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.


non-syndromic intellectual disability

description: An intellectual disability that is not part of a larger syndrome.


complement component C1s deficiency

description: A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.


factor XIII deficiency

description: An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.


congenital hypothyroidism, domestic cat

description: Congenital hypothyroidism that occurs in domestic cat.


pure hair and nail ectodermal dysplasia

description: Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.


name: chronic rapidly progressive glomerulonephritis

description: Chronic form of rapidly progressive glomerulonephritis.


schizophrenia 7

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.


polydactyly, domestic cat

description: Polydactyly that occurs in domestic cat.


canine Langerhans cell histiocytosis

description: Langerhans cell histiocytosis occurring in a dog.


vaccinia

description: The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.


name: acute myeloid leukemia with CEBPA somatic mutations

description: Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).


inhalational botulism

description: Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).


name: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


Gerstmann-Straussler-Scheinker syndrome

description: A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.


name: congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome


male reproductive system disorder

description: A disease involving the male reproductive system.


immunodeficiency 96

description: An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.


name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

description: Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.


megacolon, pig

description: Megacolon that occurs in pig.


polyploidy

description: Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.


panner disease

description: Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.


hereditary recurrent myoglobinuria

description: An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.


entropion, domestic cat

description: Entropion that occurs in domestic cat.


hyperparathyroidism, non-human animal

description: Hyperparathyroidism that occurs in non-human animals.


name: non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy


name: X-linked intellectual disability-psychosis-macroorchidism syndrome


lichen planus pemphigoides

description: Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.


HAND2 related congenital heart defect

description: A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.


name: atresia of external auditory canal and conductive deafness


livedoid vasculopathy

description: Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.


Stimmler syndrome

description: Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.


name: congenital anomaly of the great arteries


name: ankyloblepharon filiforme imperforate anus


name: syndromic X-linked intellectual disability Claes-Jensen type


name: hypogonadotropic hypogonadism 20 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.


name: factor 5 and Factor VIII, combined deficiency of, 2

description: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.


large artery stroke

description: Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.


GM2 gangliosidosis

description: A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.


retinitis pigmentosa 26

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


name: erythrocyte galactose epimerase deficiency


bullous pemphigoid, dog

description: Bullous pemphigoid that occurs in dog.


name: alpha-N-acetylgalactosaminidase deficiency type 1

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.


Rickettsiosis

description: A group of infectious diseases that is caused by Rickettsia.


name: corpus callosum agenesis of blepharophimosis robin type


name: hypogonadotropic hypogonadism 4 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.


name: developmental and epileptic encephalopathy 104


Perrault syndrome 3

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


name: Charcot-Marie-Tooth disease dominant intermediate C

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.


fibroblastic liposarcoma

description: A liposarcoma characterized by the presence of a fibroblastic component.


pharynx neoplasm

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


hereditary intrinsic factor deficiency

description: Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.


name: neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia


name: oocyte/zygote/embryo maturation arrest 21


syndactyly, cattle

description: Syndactyly that occurs in cattle.


palpebral epidermal tumor

description: A neoplasm (disease) that involves the skin of eyelid.


description: A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.


tick infestation

description: Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.


name: hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome


name: progressive non-infectious anterior vertebral fusion

description: Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.


name: patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

description: Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.


immunoglobulin heavy-and-light chain

description: An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.


name: Klippel-Feil syndrome 3, autosomal dominant

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.


thrombophlebitis migrans

description: A thrombophlebitis that is characterized by repeated occurrences of thrombophlebitis in different locations.


name: telangiectasia, hereditary hemorrhagic, type 1


name: acute subendocardial myocardial infarction

description: Acute form of subendocardial myocardial infarction.


name: malignant germ cell tumor of corpus uteri

description: A malignant germ cell tumor that involves the body of uterus.


name: severe early-onset axonal neuropathy due to MFN2 deficiency

description: A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.


name: normophosphatemic familial tumoral calcinosis


cor biloculare

description: A congenital anatomic anomaly in which the heart has only two chambers.


thoracolaryngopelvic dysplasia

description: A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.


name: retinal degeneration, crab-eating macaque

description: Retinal degeneration that occurs in crab-eating macaque.


name: posterior polymorphous corneal dystrophy

description: Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.


translocation Down syndrome

description: Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.


name: acute myeloid leukemia, t(16;21)(q24;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)


name: carnitine palmitoyl transferase II deficiency, severe infantile form

description: The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.


patent ductus venosus, non-human animal

description: Patent ductus venosus that occurs in non-human animals.


description: A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.


eye infectious disorder

description: An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.


GLUT1 deficiency syndrome

description: An epileptic encephalopathy resulting from impaired glucose transport into the brain.


name: acute disseminated encephalomyelitis with anti-MOG antibodies


name: neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis


name: neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities


Bardet-Biedl syndrome 1

description: A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.


hypertensive heart disease

description: Abnormal enlargement of the heart resulting from long-standing hypertension.


name: osteopetrosis with gingival hamartomas, non-human animal

description: Osteopetrosis with gingival hamartomas that occurs in non-human animals.


name: short-rib thoracic dysplasia 18 with polydactyly


name: median cleft of the upper lip and maxilla

description: Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.


name: myoglobinuria, acute recurrent, autosomal recessive


name: coronal synostosis, syndactyly and jejunal atresia


chronic gonorrhea of cervix

description: Chronic form of gonococcal cervicitis.


acute gonococcal cervicitis

description: Acute form of gonococcal cervicitis.


name: combined oxidative phosphorylation deficiency 36


name: chromosome 11p13 deletion syndrome, distal


spontaneous ocular nystagmus

description: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)


name: microcephaly, short stature, and limb abnormalities


Majocchi granuloma

description: An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.


name: craniometaphyseal dysplasia, autosomal dominant


anemia due to enzyme disorder

description: Any form of anemia that results from the absence of, or the defective action of, any enzyme.


description: Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).


mucolipidosis

description: A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.


description: Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.


pityriasis rosea

description: A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.


spinocerebellar ataxia type 20

description: Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.


name: steatocystoma multiplex-natal teeth syndrome

description: The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.


partial hydatidiform mole

description: Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.


name: hearing impairment and infertile male syndrome

description: A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.


name: olivopontocerebellar atrophy II, autosomal recessive


acrofrontofacionasal dysostosis

description: A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.


hidrocystoma

description: A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.


description: X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome.


Marfan syndrome, pig

description: Marfan syndrome that occurs in pig.


tuberous sclerosis 2

description: Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).


tracheobronchitis

description: Inflammation of the tracheobronchial tree.


name: leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome


cataract 35

description: A cataract that has material basis in variation in the region 19q13.


spermatogenic failure 8

description: Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.


nasolacrimal duct disorder

description: A disease or disorder that involves the nasolacrimal duct.


scabies

description: A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows.


cataract-deafness-hypogonadism syndrome

description: Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.


name: autosomal dominant slowed nerve conduction velocity

description: Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.


recombinant 8 syndrome

description: Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.


polycystic kidney disease, sheep

description: Polycystic kidney disease that occurs in sheep.


name: developmental and epileptic encephalopathy 114


name: intellectual disability syndrome due to a DYRK1A point mutation


name: spondyloepiphyseal dysplasia, Stanescu type


name: facioscapulohumeral muscular dystrophy 4, digenic


name: heterotaxy, visceral, 9, autosomal, with male infertility


name: acromegaloid features, overgrowth, cleft palate, and hernia


autosomal dominant sensory ataxia 1

description: Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.


2q31.1 microdeletion syndrome

description: 2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.


autosomal dominant Robinow syndrome 2

description: Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.


name: hypertelorism-preauricular sinus-punctual pits-deafness syndrome


distal trisomy 6q

description: Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.


radiculopathy

description: Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.


factor X deficiency, domestic cat

description: Factor X deficiency that occurs in domestic cat.


orofaciodigital syndrome

description: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.


episodic pain syndrome, familial, 2

description: Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.


persistent truncus arteriosus

description: A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.


short QT syndrome

description: A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified


non-Langerhans cell histiocytosis

description: Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).


Warburg micro syndrome 1

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.


acrocraniofacial dysostosis

description: Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.


staphyloenterotoxemia

description: Food poisoning that is caused by Staphylococcal infection.


nasopharyngitis

description: An inflammatory process that affects the nasopharynx.


Dennis-Fairhurst-Moore syndrome

description: A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder.


retinal macular dystrophy type 2

description: Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.


name: congenital heart defects, multiple types, 1, X-linked


congenital agammaglobulinemia

description: An instance of agammaglobulinemia that is present from birth.


vesicoureteral reflux 8

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


malignancy in giant cell tumor of bone

description: A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).


name: azygos continuation of the inferior vena cava


name: vitamin D hydroxylation-deficient rickets, type 1B

description: An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.


name: neurodevelopmental disorder with microcephaly, ataxia, and seizures


torsion dystonia 7

description: A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p.


name: alar cartilages hypoplasia-coloboma-telecanthus syndrome

description: Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.


gingival neoplasm

description: A benign or malignant neoplasm that affects the upper or lower gingiva.


carnitine acetyltransferase deficiency

description: A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.


name: autoimmune primary adrenal insufficiency

description: Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.


name: inherited glutathione metabolism disease

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


hydrolethalus syndrome 1

description: Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.


tuberculum sellae meningioma

description: A meningioma that affects the tuberculum sellae.


name: punctate palmoplantar keratoderma type 2

description: Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.


oral leukoedema

description: A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)


infective vaginitis

description: An infectious process affecting the vagina. Symptoms include pain and purulent discharge.


name: ectodermal dysplasia arthrogryposis diabetes mellitus


canine hepatocellular carcinoma

description: A malignant tumor arising from hepatocytes that occurs in dogs.


description: Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.


focal segmental glomerulosclerosis 8

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.


diabetes insipidus, pig

description: Diabetes insipidus that occurs in pig.


osteoradionecrosis

description: Necrosis of bone following radiation injury.


velo-facial-skeletal syndrome

description: Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.


name: short rib-polydactyly syndrome, Majewski type


sleep-wake disorder

description: Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.


endometrial disorder

description: A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.


nerve plexus neoplasm

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


name: spondyloepimetaphyseal dysplasia, Isidor-Toutain type


intellectual disability, X-linked 61

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


name: coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness


name: cerebellar atrophy, visual impairment, and psychomotor retardation;


name: autosomal recessive nonsyndromic hearing loss 67

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.


distal 7q11.23 microdeletion syndrome

description: Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).


12q15q21.1 microdeletion syndrome

description: 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.


gasserian ganglion meningioma

description: A meningioma that affects the trigeminal ganglion.


steatitis

description: A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)


familial adenomatous polyposis, dog

description: Familial adenomatous polyposis that occurs in dog.


name: diabetes mellitus type 2 associated cataract

description: Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism


atrial septal defect, dog

description: Atrial septal defect that occurs in dog.


glaucoma-sleep apnea syndrome

description: Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).


name: global developmental delay with speech and behavioral abnormalities


rheumatic disease of mitral valve

description: A rheumatologic disorder that involves the mitral valve.


name: developmental and epileptic encephalopathy 99


Perrault syndrome 1

description: Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.


name: congenital thrombotic thrombocytopenic purpura

description: Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


complement receptor deficiency

description: A disorder with basis in disruption of a complement receptor.


name: combined immunodeficiency due to CD3gamma deficiency

description: Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.


name: hyperparathyroidism, primary, caused by water clear cell hyperplasia


high pressure neurological syndrome

description: A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.


name: autoimmune thrombocytopenia, domestic cat

description: Autoimmune thrombocytopenia that occurs in domestic cat.


description: A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.


factor XI deficiency, cattle

description: Factor XI deficiency that occurs in cattle.


name: aromatic L-amino acid decarboxylase deficiency

description: Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.


Antley-Bixler syndrome

description: Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.


borderline leprosy

description: A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.


name: testicular sex cord-stromal benign neoplasm

description: A sex cord-stromal benign neoplasm that arises from the testis.


description: Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.


pentasomy

description: A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.


name: neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline


hereditary spastic paraplegia 44

description: A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.


anodontia, domestic cat

description: Anodontia that occurs in domestic cat.


name: combined oxidative phosphorylation deficiency 43


gangliosidosis, non-human animal

description: Gangliosidosis that occurs in non-human animals.


familial adenomatous polyposis, pig

description: Familial adenomatous polyposis that occurs in pig.


name: inborn disorder of biogenic amine metabolism and transport


name: multiple mitochondrial dysfunctions syndrome 2

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.


autosomal dominant sideroblastic anemia

description: Autosomal dominant form of sideroblastic anemia.


norovirus infectious disease

description: Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.


name: Chediak-Higashi syndrome, non-human animal

description: Chediak-Higashi syndrome that occurs in non-human animals.


sialolithiasis

description: A concretion in the salivary gland.


name: hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


description: Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.


name: osteodysplasty, precocious, of Danks, Mayne, and Kozlowski


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

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


vein disorder

description: A disease involving the vein.


pelvis-shoulder dysplasia

description: Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.


Lutembacher syndrome

description: A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.


benign lipomatous neoplasm

description: A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.


name: febrile infection-related epilepsy syndrome

description: A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.


c8 deficiency, non-human animal

description: C8 deficiency that occurs in non-human animals.


Emery-Dreifuss-like muscular dystrophy

description: A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.


name: thrombophilia, X-linked, due to factor 8 defect


Sheldon-hall syndrome

description: Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.


dorsal spinal cord lipoma

description: A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities.


entropion, non-human animal

description: Entropion that occurs in non-human animals.


name: PRRT2-associated paroxysmal movement disorder

description: A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes.


Carey-Fineman-Ziter syndrome 2

description: Any Carey-Fineman-Ziter syndrome in which the cause of the disease is a mutation in the MYMX gene.


pre-descemet corneal dystrophy

description: Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.


name: nephrolithiasis, X-linked recessive, with renal failure


name: pigmented nodular adrenocortical disease, primary, 1

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.


name: inborn disorder of cobalamin metabolism and transport


spinal stenosis, non-human animal

description: Spinal stenosis that occurs in non-human animals.


name: acute myeloid leukemia with NPM1 somatic mutations

description: Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.


name: neurodevelopmental disorder with hyperkinetic movements and dyskinesia


Bartter disease type 4A

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


hereditary ataxia

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


congenital myasthenic syndrome 10

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.


BRESEK syndrome

description: A syndrome characterized by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).


description: A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.


bladder neck cancer

description: A malignant neoplasm involving the neck of urinary bladder.


name: atypical hemolytic-uremic syndrome with H factor anomaly


retinitis pigmentosa 77

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.


name: mitochondrial trifunctional protein deficiency 1


phenylketonuria, non-human animal

description: Phenylketonuria that occurs in non-human animals.


penile urethral cancer

description: A urethra cancer that involves the penis.


name: indolent primary cutaneous B-cell lymphoma


name: autosomal dominant auditory neuropathy 1

description: Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.


candidiasis, familial, 4

description: Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.


benign meningioma

description: A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection.


neuronal ceroid lipofuscinosis 10

description: A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: ophthalmoplegia, familial total, with iris transillumination


name: congenital fiber-type disproportion myopathy

description: A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.


renal hypoplasia, chicken

description: Renal hypoplasia that occurs in chicken.


bullous diffuse cutaneous mastocytosis

description: Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.


color agnosia

description: An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.


rodent disease

description: Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs).


name: non-specific autoimmune cerebellar ataxia with characteristic antibodies


lymphatic malformation 5

description: A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.


name: tetrahydrobiopterin metabolic process disease

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


malaria, avian

description: Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria.


paucibacillary leprosy

description: A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.


PSAP-related sphingolipidosis

description: A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.


familial mitral valve prolapse

description: An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.


renal agenesis, non-human animal

description: Renal agenesis that occurs in non-human animals.


urinary bladder anterior wall cancer

description: Evidence of a malignant neoplasm of the anterior wall of bladder.


desmoid tumor

description: A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.


nasal cavity cancer

description: A malignant neoplasm involving the nasal cavity


fixed subaortic stenosis

description: Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.


Joubert syndrome 6

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.


diabetes mellitus, pig

description: Diabetes mellitus that occurs in pig.


feline synovial cell sarcoma

description: Synovial cell sarcoma occurring in a cat.


Cooks syndrome

description: Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.


Al Kaissi syndrome

description: Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).


choanal atresia, domestic cat

description: Choanal atresia that occurs in domestic cat.


epithelial predominant Wilms' tumor

description: Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.


Hashimoto-Pritzker syndrome

description: Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).


Adams-Oliver syndrome 2

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.


benign eyelid neoplasm

description: A non-metastasizing neoplasm that arises from the upper or lower eyelid.


polydactyly, domestic guinea pig

description: Polydactyly that occurs in domestic guinea pig.


non-distal trisomy 13q

description: Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.


coloboma, chicken

description: Coloboma that occurs in chicken.


name: marfanoid habitus-autosomal recessive intellectual disability syndrome

description: Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.


mucopolysaccharidosis type 9

description: An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.


name: acral dysostosis dyserythropoiesis syndrome

description: An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet.


aquagenic pruritus

description: Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.


name: granulocytopenia with immunoglobulin abnormality


hemosiderosis

description: Accumulation of iron in internal organs.


X-linked cerebellar ataxia

description: X-linked form of cerebellar ataxia.


syndactyly, domestic cat

description: Syndactyly that occurs in domestic cat.


cortisone reductase deficiency 1

description: Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.


name: developmental and epileptic encephalopathy, 49

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.


name: lissencephaly with cerebellar hypoplasia type C

description: Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.


name: alopecia - intellectual disability syndrome

description: An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.


name: autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome


name: hypogonadotropic hypogonadism 26 with or without anosmia


name: myopathy, congenital proximal, with minicore lesions


name: circadian rhythm sleep disorder, jet lag type

description: A circadian sleep disorder that results from traveling across time zones.


name: gingival fibromatosis-progressive deafness syndrome

description: Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.


name: lethal congenital contracture syndrome 4

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.


name: severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

description: Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14.


erythroleukemia

description: An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.


name: intellectual disability, autosomal dominant 11

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.


gastrointestinal tularemia

description: A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.


name: intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency


name: partial deletion of the long arm of chromosome 14

description: Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.


name: Ehlers-Danlos syndrome, spondylodysplastic type

description: A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.


ACTL6A-related BAFopathy

description: Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.


congenital Epstein-Barr virus infection

description: Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.


name: non-classic congenital lipoid adrenal hyperplasia due to STAR deficency


diabetes insipidus, dog

description: Diabetes insipidus that occurs in dog.


acquired night blindness

description: An instance of night blindness that is acquired during the lifetime of the individual.


name: autosomal recessive nonsyndromic hearing loss 14

description: An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.


name: microcephaly 7, primary, autosomal recessive

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


retinal ischemia

description: A ischemic disease that involves the retina.


name: short-limb skeletal dysplasia with severe combined immunodeficiency

description: Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.


name: modifier, X-linked, for Neurofunctional defects


hereditary motor neuron disease

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


anterior horn disorder

description: Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.


name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of an KMT2A related fusion protein.


name: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

description: Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.


pupil disorder

description: A disease involving the pupil.


colorectal cancer, susceptibility to, 1

description: Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.


name: neurodevelopmental disorder with or without early-onset generalized epilepsy


name: Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

description: A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.


name: mitochondrial complex IV deficiency, nuclear type 23


angiosarcoma of the scalp

description: Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.


factor XI deficiency, domestic cat

description: Factor XI deficiency that occurs in domestic cat.


name: intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism


description: A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.


name: intellectual developmental disorder, autosomal recessive 72


name: congenital muscular dystrophy due to LMNA mutation

description: Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.


name: dihydropyrimidinase deficiency, non-human animal

description: Dihydropyrimidinase deficiency that occurs in non-human animals.


name: isolated hereditary congenital facial paralysis

description: Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.


Krabbe disease, domestic cat

description: Krabbe disease that occurs in domestic cat.


classic Kaposi sarcoma

description: A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.


name: autosomal recessive congenital ichthyosis 3

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.


trypanosomiasis, non-human animal

description: Trypanosomiasis that occurs in non-human animals.


brachydactyly, chicken

description: Brachydactyly that occurs in chicken.


name: striatal degeneration, autosomal dominant

description: An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.


ribbing disease

description: Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described.


name: polycystic ovaries-urethral sphincter dysfunction syndrome

description: Polycystic ovaries-urethral sphincter dysfunction syndrome is characterized by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.


Y-linked disease

description: Y-linked form of disease.


Perrault syndrome 2

description: Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.


name: neuromyelitis optica spectrum disorder with anti-MOG antibodies


name: multiple paragangliomas associated with polycythemia


Charcot-Marie-Tooth disease type 2E

description: Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.


cor triatriatum sinister

description: Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.


argyria

description: Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).


name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome


mal de Meleda

description: Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.


Erdheim-Chester disease

description: Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.


sulfhemoglobinemia

description: A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)


Harrod syndrome

description: Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.


name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies


corneal endothelial dystrophy

description: A corneal dystrophy (disease) that involves the corneal epithelium.


MEGF8-related Carpenter syndrome

description: Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.


trichosporonosis

description: Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.


name: spondyloepiphyseal dysplasia, Reardon type

description: Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.


name: intellectual developmental disorder with hypotonia and behavioral abnormalities


name: hypoxanthine guanine phosphoribosyltransferase suppressor


intracranial arteriosclerosis

description: Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.


paroxysmal dyskinesia, dog

description: Paroxysmal dyskinesia that occurs in dog.


name: mandibulofacial dysostosis with ptosis, autosomal dominant


prostate leiomyoma

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


name: familial congenital palsy of trochlear nerve

description: An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.


name: pituitary hormone deficiency, combined, 1

description: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.


name: microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

description: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.


name: neurodevelopmental disorder with hypotonia and dysmorphic facies


name: palmoplantar keratoderma-esophageal carcinoma syndrome

description: An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.


neonatal leukemia

description: Leukemia that occurs during the neonatal period.


Leber congenital amaurosis

description: Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.


name: neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter


patent urachus, white rhinoceros

description: Patent urachus that occurs in white rhinoceros.


distal trisomy 13q

description: Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.


name: oculopharyngeal myopathy with leukoencephalopathy 1


name: combined oxidative phosphorylation deficiency 50


name: acute tricyclic antidepressant poisoning

description: Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.


name: otospondylomegaepiphyseal dysplasia, autosomal dominant

description: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.


name: peroxisome biogenesis disorder due to PEX26 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.


leukemia, acute, X-linked

description: X-linked form of acute leukemia


granular corneal dystrophy type II

description: Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.


name: Krabbe disease due to saposin A deficiency


Farber lipogranulomatosis

description: A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.


name: adult-onset distal myopathy due to VCP mutation

description: Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.


retinitis pigmentosa 12

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.


name: growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

description: A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.


name: congenital disorder of glycosylation type I

description: A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.


secondary trimethylaminuria

description: A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.


immunodeficiency 19

description: Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.


North Carolina macular dystrophy

description: North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.


postmenopausal osteoporosis

description: Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.


9q21.13 microdeletion syndrome

description: A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.


fibrosarcomatous osteosarcoma

description: A conventional osteosarcoma characterized by the presence of spindle shaped cells.


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

description: An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.


Langerhans cell sarcoma

description: A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)


pigmented spindle cell nevus

description: A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.


pyruvate metabolism disorder

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


congenital pulmonary lymphangiectasia

description: Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.


Say-Barber-Miller syndrome

description: Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.


name: congenital disorder of glycosylation, type Iw, autosomal dominant


name: psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome


name: progressive scapulohumeroperoneal distal myopathy


screw worm infectious disease

description: Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.


name: radioulnar synostosis-developmental delay-hypotonia syndrome

description: Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).


autosomal anomaly

description: Chromosomal disorder in which the chromosomal anomaly involves an autosome.


inherited neurodegenerative disorder

description: An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.


IVIC syndrome

description: IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.


name: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome


respiratory system benign neoplasm

description: A benign neoplasm that involves the respiratory system.


split hand-foot malformation 2

description: A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.


methylcobalamin deficiency type cblE

description: An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.


name: neurodevelopmental disorder with seizures and gingival overgrowth


dourine

description: A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia.


name: developmental and epileptic encephalopathy, 71


name: Carabelli anomaly of maxillary molar teeth


choroidal dystrophy, central areolar, 1

description: Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


superficial Fibromatosis

description: A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.


name: succinic semialdehyde dehydrogenase deficiency

description: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.


trochlear nerve disorder

description: A disease involving the trochlear nerve.


neurotic depression

description: A term used for any state of depression that is not psychotic.


Plasmodium ovale malaria

description: An malaria caused by infection with Plasmodium ovale.


name: ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive


name: epilepsy, early-onset, vitamin B6-dependent


neuromuscular disease

description: Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions


Morvan syndrome

description: Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.


atrial conduction disease

description: Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.


osteosclerotic plasma cell myeloma

description: A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.


name: Angelman syndrome due to maternal 15q11q13 deletion


disorder of polyamine metabolism

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


description: Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.


Aicardi-Goutieres syndrome

description: Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.


congenital myasthenic syndrome 8

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


name: ciliary discoordination due to random ciliary orientation


brucellosis

description: Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases.


description: A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003


nocturnal asthma

description: A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.


Ross river fever

description: A disease caused by infection with Ross River virus.