description: Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.


atheroembolism of kidney

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

description: A cholesterol embolism that involves the kidney.


vitiligo, cattle

description: Vitiligo that occurs in cattle.


deafness-craniofacial syndrome

description: Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.


reactive airway disease

description: Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.


name: autosomal recessive spinocerebellar ataxia 14

description: Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).


eosinophil peroxidase deficiency

description: A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.


name: autosomal recessive spastic paraplegia type 59


name: mitochondrial complex 1 deficiency, nuclear type 26


atypical Werner syndrome

description: A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.


Prieto syndrome

description: This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.


tetralogy of fallot, cattle

description: Tetralogy of fallot that occurs in cattle.


non-atopic asthma

description: A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma.


name: autosomal recessive nonsyndromic hearing loss 98

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


name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome


name: celiac disease-epilepsy-cerebral calcification syndrome

description: Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.


name: female infertility due to oocyte meiotic arrest


name: acute megakaryoblastic leukemia in down syndrome


polydactyly-myopia syndrome

description: Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.


pseudorabies

description: A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.


3M syndrome 2

description: Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.


name: developmental delay, dysmorphic facies, and brain anomalies


fetal iodine syndrome

description: Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).


name: ALG1-congenital disorder of glycosylation

description: A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).


Newfoundland cone-rod dystrophy

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency


acrodermatitis enteropathica, cattle

description: Acrodermatitis enteropathica that occurs in cattle.


name: craniosynostosis-intellectual disability syndrome of 51N and Gettig


Stickler syndrome, type 5

description: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.


alkaptonuria

description: A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).


name: intellectual disability, autosomal recessive 4


name: X-linked intellectual disability, Stocco dos Santos type


name: hereditary breast ovarian cancer syndrome

description: An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.


name: hypohidrosis with abnormal palmar dermal Ridges


name: Friedreich ataxia and congenital glaucoma


pseudounicornuate uterus

description: Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.


persistent truncus arteriosus, horse

description: Persistent truncus arteriosus that occurs in horse.


primary hypertrophic osteoarthropathy

description: A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.


osteogenesis imperfecta type 2

description: Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.


Hendra virus infection

description: Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.


name: microcephaly, growth restriction and increased sister chromatid exchange


neutrophil immunodeficiency syndrome

description: A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.


bacterial vaginosis

description: Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.


FG syndrome 4

description: Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.


genitopatellar syndrome

description: Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.


mucositis

description: Inflammation of the mucous membranes.


name: psychomotor retardation, epilepsy, and craniofacial dysmorphism


description: X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.


name: immunodeficiency 65, susceptibility to viral infections


acetazolamide-responsive myotonia

description: Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).


primary ciliary dyskinesia 7

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.


hereditary otorhinolaryngologic disease

description: An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.


papular xanthoma

description: Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.


factor X deficiency, non-human animal

description: Factor X deficiency that occurs in non-human animals.


name: metachromatic leukodystrophy due to saposin B deficiency


otospondylomegaepiphyseal dysplasia

description: An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.


description: Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).


name: dystonia, early-onset, and/or spastic paraplegia


name: neuronopathy, distal hereditary motor, autosomal recessive 7


name: congenital pulmonary veins atresia or stenosis

description: Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.


Scott Syndrome, dog

description: Scott Syndrome that occurs in dog.


name: disorder of lectin complement activation pathway

description: A disease that has its basis in the disruption of complement activation, lectin pathway.


melanoma, non-human animal

description: Melanoma that occurs in non-human animals.


name: acute myeloid leukemia, t(4;11)(q21;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)


malignant peritoneal mesothelioma

description: An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.


name: male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

description: This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.


malignant histiocytosis

description: Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells.


malignant adenoma

description: A cell type cancer that is composed of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.


isolated microphthalmia 5

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.


atrial fibrillation, familial, 6

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


name: acquired carbohydrate metabolism disease

description: An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism.


cleft palate, spectacled flying fox

description: Cleft palate that occurs in spectacled flying fox.


leukonychia totalis

description: Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.


Enterococcus faecalis infection

description: A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.


avascular necrosis

description: Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.


elliptocytosis 2

description: Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.


name: intellectual disability, autosomal recessive 12


sclerosteosis 2

description: Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.


Steel syndrome

description: A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.


achondroplasia, cattle

description: Achondroplasia that occurs in cattle.


neonatal alloimmune neutropenia

description: A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.


Ramos-Arroyo syndrome

description: Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.


name: spastic paraplegia 90B, autosomal recessive


malignant cranial nerve neoplasm

description: Abnormal malignant growth of the cells that comprise the cranial nerve.


name: segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

description: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.


name: combined oxidative phosphorylation deficiency 33

description: An autosomal recessive condition caused by mutation(s) in the C1QBP gene, encoding complement component 1 Q subcomponent-binding protein, mitochondrial. The phenotype is highly variable.


choroideremia hypopituitarism

description: This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.


atrial septal defect 5

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.


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

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


name: neurogenic scapuloperoneal syndrome, Kaeser type


eyelid disorder

description: A disease involving the eyelid.


pemphigoid

description: An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.


name: ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia


name: adenosine monophosphate deaminase deficiency

description: Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.


Stormorken syndrome

description: Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.


ankylosing spondylitis, dog

description: Ankylosing spondylitis that occurs in dog.


name: spondyloepiphyseal dysplasia tarda, Kohn type

description: Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.


osteogenesis imperfecta type 15

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.


name: mitochondrial complex 4 deficiency, nuclear type 19


name: endocrine system disorder, non-human animal

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


hemochromatosis type 3

description: Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.


name: autosomal recessive nonsyndromic hearing loss 96

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.


encephalitozoonosis

description: Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.


congenital myasthenic syndrome 21

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.


syphilitic encephalitis

description: An encephalitis caused by infection with Treponema.


stromal predominant kidney Wilms tumor

description: Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.


name: muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

description: This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.


ureteral lymphoma

description: A lymphoma that involves the ureter.


name: pilodental dysplasia-refractive errors syndrome

description: Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.


name: myopathy, lactic acidosis, and sideroblastic anemia

description: Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy.


name: reticular dystrophy of the retinal pigment epithelium

description: Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.


description: Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.


name: benign childhood occipital epilepsy, Panayiotopoulos type

description: A rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.


name: spastic paraplegia 90A, autosomal dominant


congenital bile acid synthesis defect 2

description: Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.


corneal dystrophy, non-human animal

description: Corneal dystrophy that occurs in non-human animals.


Singleton-Merten syndrome 1

description: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.


Grayson-Wilbrandt corneal dystrophy

description: Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.


CHIME syndrome

description: CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.


adult neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.


name: persistent Mullerian duct syndrome, domestic cat

description: Persistent Mullerian duct syndrome that occurs in domestic cat.


name: disorder of development or morphogenesis, non-human animal

description: Disorder of development or morphogenesis that occurs in non-human animals.


lysosomal storage disease

description: A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.


name: F12-associated cold autoinflammatory syndrome


canine hemangiosarcoma

description: Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause.


name: multiple congenital anomalies due to 14q32.2 maternally expressed gene defect

description: A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.


cyclic vomiting syndrome

description: A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting.


hydrolethalus syndrome

description: Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.


name: cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism


hereditary spastic paraplegia 31

description: A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.


description: A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.


name: strictly posterior acute myocardial infarction


description: A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.


name: neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

description: Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.


name: Caliciviridae infectious disease, non-human animal

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


postinfectious vasculitis

description: Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.


AIPL1-related retinopathy

description: A retinopathy caused by biallelic variants in the AIPL1 gene.


name: dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities


spastic ataxia 7

description: Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.


name: amyloidosis of gingiva and conjunctiva, with intellectual disability


kidney lipoma

description: A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.


acute hemorrhagic leukoencephalitis

description: Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.


name: neurodevelopmental disorder with hypotonia and brain abnormalities


mosaic trisomy 7

description: Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.


name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

description: Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.


familial primary hypomagnesemia

description: A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.


proliferating trichilemmal cyst

description: Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.


name: amelogenesis imperfecta hypomaturation type 2A5

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.


gonadal tissue neoplasm

description: Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.


Aloi Tomasini Isaia syndrome

description: A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: platelet responsiveness to adrenaline, depressed


name: degeneration of macula and posterior pole


name: congenital hypothyroidism, non-human animal

description: Congenital hypothyroidism that occurs in non-human animals.


name: skin disease caused by bacterial infection

description: Skin diseases caused by bacteria.


leukodystrophy, sheep

description: Leukodystrophy that occurs in sheep.


name: microcephaly 4, primary, autosomal recessive


complex sleep apnea

description: A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.


name: seborrhea-like dermatitis with psoriasiform elements


pulmonary hypertension, neonatal

description: Abnormally high blood pressure in a newborn child.


childhood medulloblastoma

description: A medulloblastoma occurring in children.


name: X-linked recessive mitochondrial myopathy

description: A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.


Lyell syndrome

description: Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.


name: cleft palate with or without ankyloglossia, X-linked

description: X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.


name: intellectual disability, autosomal recessive 59

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.


annular constricting bands

description: A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand.


Darier disease

description: Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.


name: neurodevelopmental disorder with or without variable movement or behavioral abnormalities


description: Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.


congenital pseudomyotonia, cattle

description: Congenital pseudomyotonia that occurs in cattle.


self-healing collodion baby

description: Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.


benign vaginal mixed tumor

description: A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.


name: isolated growth hormone deficiency, type 4


name: peripheral motor neuropathy-dysautonomia syndrome

description: Peripheral motor neuropathy-dysautonomia syndrome is characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.


Catel-Manzke syndrome

description: Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.


name: linear skin defects with multiple congenital anomalies 3

description: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.


metaphyseal anadysplasia 2

description: Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.


Joubert syndrome 25

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.


cervical alveolar soft part sarcoma

description: An alveolar soft part sarcoma arising from the cervix.


focal myositis

description: Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.


benign neoplasm of renal pelvis

description: A benign neoplasm that involves the renal pelvis.


classic pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.


name: muscular dystrophy-dystroglycanopathy, type B


nephrogenic adenoma of the urethra

description: A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.


name: non-syndromic bicoronal and sagittal craniosynostosis


name: intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration


tetradysmelia, non-human animal

description: Tetradysmelia that occurs in non-human animals.


name: acute myeloid leukemia, t(15;17)(q24;q21)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)


name: partial deletion of the long arm of chromosome 7

description: Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


Wildervanck syndrome

description: Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.


name: neurodevelopmental disorder with speech delay and variable ocular anomalies


name: pseudoxanthoma elasticum-like papillary dermal elastolysis

description: Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.


Pfeiffer-Palm-Teller syndrome

description: Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.


name: combined oxidative phosphorylation deficiency 22


hereditary spastic paraplegia 64

description: An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.


name: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

description: Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.


hyperthyroidism, rabbit

description: Hyperthyroidism that occurs in rabbit.


name: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion


seizures, benign familial infantile, 5

description: Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.


amyotrophic lateral sclerosis type 21

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.


oral submucous fibrosis

description: Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.


toxin-mediated infectious botulism

description: Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).


periarthritis

description: Inflammation of the tissues around a joint. (Dorland, 27th ed)


canine transitional cell carcinoma

description: A malignant neoplasm that affects dogs, arising from transitional epithelium.


name: rhizomelic chondrodysplasia punctata type 2

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


name: secondary central precocious puberty in male


name: lethal arteriopathy syndrome due to fibulin-4 deficiency


isolated spina bifida

description: A spina bifida (disease) that is not part of a larger syndrome.


name: short stature, microcephaly, and endocrine dysfunction


name: autosomal dominant nonsyndromic hearing loss 64

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


name: proteasome-associated autoinflammatory syndrome 5


isolated congenital megalocornea

description: Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.


name: fibula, recurrent dislocation of head of


name: furuncular myiasis due to Cordylobia anthropophaga


name: COG7-congenital disorder of glycosylation

description: COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.


histiocytic sarcoma

description: An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.


name: mesomelic dwarfism of hypoplastic tibia and radius type


primary motor cortex epilepsy

description: A epilepsy that involves the primary motor cortex.


malignant mesenchymoma

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


name: intellectual developmental disorder with speech delay, autism, and dysmorphic facies


cone-rod dystrophy 17

description: A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.


name: intellectual disability-brachydactyly-Pierre Robin syndrome

description: Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.


bone resorption disease

description: A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.


name: neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia


name: partial deletion of the long arm of chromosome 16


hereditary lipodystrophy

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


mastocytoma

description: A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.


KIF7-related ciliopathy

description: A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12.


name: intellectual disability, autosomal dominant 34

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.


16p13.11 microduplication syndrome

description: 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.


pemphigus, non-human animal

description: Pemphigus that occurs in non-human animals.


apraxia

description: Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.


venom allergy

description: An allergic disease involving venom.


name: primary tuberculosis of the digestive system


name: microcephaly 15, primary, autosomal recessive


Chandler syndrome

description: Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.


familial goiter, domestic cat

description: Familial goiter that occurs in domestic cat.


medulloblastoma non-WNT/non-SHH group 3

description: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.


name: malignant pleural solitary fibrous tumor

description: A malignant form of pleural solitary fibrous tumor.


benign neoplasm

description: A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites.


neoplasm of neck

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


name: absence deformity of leg-cataract syndrome

description: Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.


name: non-syndromic congenital bronchial atresia


arenavirus hemorrhagic fever

description: A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.


alopecia areata, cattle

description: Alopecia areata that occurs in cattle.


refeeding syndrome

description: Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).


neurodermatitis

description: Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin.


disorder of protein O-glycosylation

description: A disease that has its basis in the disruption of protein O-linked glycosylation.


name: autosomal dominant centronuclear myopathy

description: An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.


name: spastic paraplegia 83, autosomal recessive


name: autosomal recessive humeroradial synostosis

description: Autosomal recessive form of humeroradial synostosis (disease).


primary ciliary dyskinesia 17

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.


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

description: An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.


athyreotic congenital hypothyroidism

description: Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)


Leber congenital amaurosis 14

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


name: progressive encephalopathy with leukodystrophy due to DECR deficiency

description: Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.


PrP systemic amyloidosis

description: Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.


benign neoplasm of sublingual gland

description: A benign neoplasm that involves the sublingual gland.


persistent placoid maculopathy

description: Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.


atrial fibrillation, familial, 14

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.


ring chromosome 3

description: Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.


renal pelvis neoplasm

description: A neoplasm (disease) that involves the renal pelvis.


name: congenital heart defects, multiple types, 4

description: Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.


name: otorhinolaryngologic disease, non-human animal

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


cerebral cavernous malformation 3

description: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.


chondroid hamartoma

description: A hamartoma that is characterized by the presence of chondroid elements.


LCA5-related retinopathy

description: A retinopathy caused by biallelic variants in the LCA5 gene.


mitochondrial DNA depletion syndrome 9

description: Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3


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

description: Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.


name: acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

description: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.


name: intrinsic factor and r binder, combined congenital deficiency of


nephropathic infantile cystinosis

description: Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.


name: developmental and epileptic encephalopathy, 64


focal segmental glomerulosclerosis 5

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.


Brucella melitensis brucellosis

description: A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.


immunodeficiency 35

description: Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.


tooth agenesis, selective, 1

description: Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.


name: cerebral sclerosis, diffuse, scholz type


benign uterine ligament neoplasm

description: A non-metastasizing neoplasm that arises from the uterine ligament.


name: idiopathic steroid-sensitive nephrotic syndrome with minimal change


name: developmental and epileptic encephalopathy, 66

description: An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the PACS2 gene, encoding phosphofurin acidic cluster sorting protein 2.


name: immune reconstitution inflammatory syndrome

description: An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.


name: periventricular heterotopia with microcephaly, autosomal recessive


chromosome 5q12 deletion syndrome

description: PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.


connective tissue neoplasm

description: Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.


name: central nervous system mesenchymal non-meningothelial tumor

description: A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)


pseudohyperaldosteronism type 2

description: Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.


name: epithelial squamous dysplasia, keratinizing desquamative, of urinary tract


hereditary spherocytosis type 1

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.


achromatopsia 4

description: Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.


name: inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation


name: osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

description: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.


name: partial duplication of the short arm of chromosome 2

description: Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


name: leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

description: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.


name: familial cold autoinflammatory syndrome 3

description: A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.


Bazex-Dupre-Christol syndrome

description: Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.


name: ankyloblepharon filiforme-imperforate anus syndrome

description: An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.


mesenteric varices

description: A varicose disease that involves the mesentery.


acute asthma

description: An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.


hemorrhagic fever-renal syndrome

description: Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.


childhood extraosseous osteosarcoma

description: An osteosarcoma arising from the soft tissue, and occurring during childhood.


name: nervous system disorder, non-human animal

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


syndromic recessive X-linked ichthyosis

description: Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.


epithelioid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.


idiopathic pulmonary artery dilatation

description: Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.


splenic disorder

description: A disease involving the spleen.


name: cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies


name: oocyte/zygote/embryo maturation arrest 18


poisoning

description: A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.


myotonia permanens

description: Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).


common variable immunodeficiency, horse

description: Common variable immunodeficiency that occurs in horse.


thyroid lymphoma

description: A lymphoma primarily involving the thyroid gland.


cerebrooculofacioskeletal syndrome 2

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.


radiodermatitis

description: A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.


neuromuscular junction disease

description: Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.


lichen amyloidosis

description: Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.


name: neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures


name: complex cortical dysplasia with other brain malformations 6

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


name: mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

description: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.


name: intellectual developmental disorder, autosomal recessive 74

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.


name: hyperinsulinemic hypoglycemia, familial, 1

description: Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.


name: ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

description: Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.


name: developmental and epileptic encephalopathy, 6

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.


name: spondylometaphyseal dysplasia, Sedaghatian type

description: Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.


hyperinsulinemic hypoglycemia

description: An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.


name: mitochondrial complex III deficiency nuclear type 2

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.


name: metaphyseal dysplasia without hypotrichosis


viral hemorrhagic fever

description: A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.


name: primary hypergonadotropic hypogonadism-partial alopecia syndrome

description: This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.


Cole-Carpenter syndrome 2

description: Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.


name: B-lymphoblastic leukemia/lymphoma with IL3-IGH

description: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).


description: Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986.


name: mitochondrial complex 4 deficiency, nuclear type 16


Usher syndrome type 1D

description: A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.


name: encephalopathy due to sulfite oxidase deficiency

description: Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.


dihydropteridine reductase deficiency

description: Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.


name: non-severe combined immunodeficiency due to COPG1 deficiency

description: Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.


cone-rod dystrophy 7

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.


name: developmental and epileptic encephalopathy, 28

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


patterned macular dystrophy 2

description: Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.


perceptual disorders

description: Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.


name: developmental and epileptic encephalopathy 108


adenosine kinase deficiency

description: A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.


tuberculosis, spinal

description: Tuberculosis of the vertebrae.


retinitis pigmentosa, non-human animal

description: Retinitis pigmentosa that occurs in non-human animals.


Senior-Loken syndrome 4

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.


name: Hennekam lymphangiectasia-lymphedema syndrome 1

description: Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.


congenital trigeminal anesthesia

description: Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).


acrofrontofacionasal dysostosis 2

description: A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.


vitelliform macular dystrophy 3

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.


name: famililal cerebral cavernous malformations

description: A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.


non-distal trisomy 10q

description: Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.


name: non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome

description: Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.


dirofilariasis

description: Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans.


neuronal ceroid lipofuscinosis 1

description: A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies


description: X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.


name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia


benign neoplasm of retina

description: A benign neoplasm that involves the retina.


name: glutathione synthetase deficiency with 5-oxoprolinuria


acquired thrombocytopenia

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


name: monocytopenia with susceptibility to infections


midbrain disorder

description: A disease or disorder that involves the midbrain.


name: bilateral microtia-deafness-cleft palate syndrome

description: This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.


name: infectious disorder of the nervous system

description: A infectious disease that involves the nervous system.


P5CS deficiency

description: An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.


frontal lobe neoplasm

description: A neoplasm involving a frontal lobe.


name: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

description: A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.


Goldmann-Favre syndrome

description: A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).


visna disease

description: Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie.


spinocerebellar ataxia type 12

description: Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.


name: autosomal dominant nonsyndromic hearing loss 58

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.


resistant hypertension

description: A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatment with 3 or more antihypertensive drugs including diuretics are ineffective.


name: immune deficiency due to impaired neutrophil phagocytosis and migration


Bolivian hemorrhagic fever

description: Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.


thyroid malformation

description: An anatomic abnormality of the thyroid gland.


name: partial trisomy of the long arm of chromosome 9


night blindness, non-human animal

description: Night blindness that occurs in non-human animals.


endometrium neoplasm

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


Leber congenital amaurosis 17

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.


name: familial scaphocephaly syndrome, McGillivray type

description: Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.


phalangeal microgeodic syndrome

description: Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.


familial goiter, American black bear

description: Familial goiter that occurs in American black bear.


dermatophytosis

description: A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area.


Ruvalcaba syndrome

description: An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.


name: arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development


name: intellectual disability, autosomal recessive 66


name: disabling pansclerotic morphea of childhood

description: Localized scleroderma presenting before the age of eighteen.


name: Mayer-Rokitansky-Kuster-Hauser syndrome type 1

description: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.


gonococcal iridocyclitis

description: An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.


CACNA2D4-related retinopathy

description: Any retinopathy caused by variants in the CACNA2D4 gene.


name: autosomal dominant progressive nephropathy with hypertension


name: generalized epilepsy with febrile seizures plus, type 10


cataract 45

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.


Argentine hemorrhagic fever

description: Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.


Alzheimer disease 3

description: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.


name: otospondylomegaepiphyseal dysplasia, autosomal recessive


mixed liposarcoma

description: A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.


citrin deficiency

description: Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).


name: chronic recurrent multifocal osteomyelitis 3


name: ichthyosis, congenital, autosomal recessive 14


name: discrete fibromuscular subaortic stenosis


protozoa infectious disease

description: An infection that is caused by protozoans.


acquired generalized lipodystrophy

description: Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).


glans penis cancer

description: A malignant neoplasm involving the glans penis.


severe spondylodysplastic dysplasia

description: An instance of spondylodysplastic dysplasia that has a high degree of severity.


retinitis pigmentosa 13

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.


name: neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus


description: Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.


name: primary cutaneous marginal zone B-cell lymphoma

description: Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder.


chromosome 12p deletion

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.


name: congenital myopathy with internal nuclei and atypical cores

description: Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.


name: microcephaly 20, primary, autosomal recessive


Pilotto syndrome

description: Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.


name: patella, familial recurrent dislocation of


name: leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate


name: intellectual disability, autosomal recessive 31


rhabdoid meningioma

description: A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.


urothelial hyperplasia

description: Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003


name: EMILIN-1-related connective tissue disease


white forelock with malformations

description: White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.


AA amyloidosis, chicken

description: AA amyloidosis that occurs in chicken.


black piedra

description: A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.


Venezuelan hemorrhagic fever

description: Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.


pulmonary amyloidosis

description: A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.


cocaine embryofetopathy

description: A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.


name: inborn disorder of branched-chain amino acid metabolism

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


complex hereditary spastic paraplegia

description: A hereditary spastic paraplegia that is part of a larger syndrome.


name: autosomal dominant nonsyndromic hearing loss 20

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.


description: X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.


name: mitochondrial complex 1 deficiency, nuclear type 13


name: arteritic anterior ischemic optic neuropathy

description: An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)


Zimmermann-Laband syndrome 2

description: Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.


mosaic trisomy 22

description: Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.