name: PRRT2-associated paroxysmal movement disorder

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


Carey-Fineman-Ziter syndrome 2

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

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


pre-descemet corneal dystrophy

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


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


name: pigmented nodular adrenocortical disease, primary, 1

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


name: inborn disorder of cobalamin metabolism and transport


spinal stenosis, non-human animal

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


name: acute myeloid leukemia with NPM1 somatic mutations

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


name: neurodevelopmental disorder with hyperkinetic movements and dyskinesia


Bartter disease type 4A

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


hereditary ataxia

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


congenital myasthenic syndrome 10

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


BRESEK syndrome

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


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


bladder neck cancer

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


name: atypical hemolytic-uremic syndrome with H factor anomaly


retinitis pigmentosa 77

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


name: mitochondrial trifunctional protein deficiency 1


phenylketonuria, non-human animal

description: Phenylketonuria that occurs in non-human animals.


penile urethral cancer

description: A urethra cancer that involves the penis.


name: indolent primary cutaneous B-cell lymphoma


name: autosomal dominant auditory neuropathy 1

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


candidiasis, familial, 4

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


benign meningioma

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


neuronal ceroid lipofuscinosis 10

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


name: ophthalmoplegia, familial total, with iris transillumination


name: congenital fiber-type disproportion myopathy

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


renal hypoplasia, chicken

description: Renal hypoplasia that occurs in chicken.


bullous diffuse cutaneous mastocytosis

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


color agnosia

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


rodent disease

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


name: non-specific autoimmune cerebellar ataxia with characteristic antibodies


lymphatic malformation 5

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


name: tetrahydrobiopterin metabolic process disease

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


malaria, avian

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


paucibacillary leprosy

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


PSAP-related sphingolipidosis

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


familial mitral valve prolapse

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


renal agenesis, non-human animal

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


urinary bladder anterior wall cancer

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


desmoid tumor

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


nasal cavity cancer

description: A malignant neoplasm involving the nasal cavity


fixed subaortic stenosis

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


Joubert syndrome 6

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


diabetes mellitus, pig

description: Diabetes mellitus that occurs in pig.


feline synovial cell sarcoma

description: Synovial cell sarcoma occurring in a cat.


Cooks syndrome

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


Al Kaissi syndrome

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


choanal atresia, domestic cat

description: Choanal atresia that occurs in domestic cat.


epithelial predominant Wilms' tumor

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


Hashimoto-Pritzker syndrome

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


Adams-Oliver syndrome 2

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


benign eyelid neoplasm

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


polydactyly, domestic guinea pig

description: Polydactyly that occurs in domestic guinea pig.


non-distal trisomy 13q

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


coloboma, chicken

description: Coloboma that occurs in chicken.


name: marfanoid habitus-autosomal recessive intellectual disability syndrome

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


mucopolysaccharidosis type 9

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


name: acral dysostosis dyserythropoiesis syndrome

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


aquagenic pruritus

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


name: granulocytopenia with immunoglobulin abnormality


hemosiderosis

description: Accumulation of iron in internal organs.


X-linked cerebellar ataxia

description: X-linked form of cerebellar ataxia.


syndactyly, domestic cat

description: Syndactyly that occurs in domestic cat.


name: preterm premature rupture of the membranes

description: A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.


cortisone reductase deficiency 1

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


name: developmental and epileptic encephalopathy, 49

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


name: lissencephaly with cerebellar hypoplasia type C

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


name: alopecia - intellectual disability syndrome

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


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


name: hypogonadotropic hypogonadism 26 with or without anosmia


name: myopathy, congenital proximal, with minicore lesions


name: circadian rhythm sleep disorder, jet lag type

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


name: gingival fibromatosis-progressive deafness syndrome

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


name: lethal congenital contracture syndrome 4

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


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

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


erythroleukemia

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


name: intellectual disability, autosomal dominant 11

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


gastrointestinal tularemia

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


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


name: partial deletion of the long arm of chromosome 14

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


name: Ehlers-Danlos syndrome, spondylodysplastic type

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


ACTL6A-related BAFopathy

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


congenital Epstein-Barr virus infection

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


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


diabetes insipidus, dog

description: Diabetes insipidus that occurs in dog.


acquired night blindness

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


name: autosomal recessive nonsyndromic hearing loss 14

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


name: microcephaly 7, primary, autosomal recessive

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


retinal ischemia

description: A ischemic disease that involves the retina.


name: short-limb skeletal dysplasia with severe combined immunodeficiency

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


name: modifier, X-linked, for Neurofunctional defects


hereditary motor neuron disease

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


anterior horn disorder

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


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

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


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

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


pupil disorder

description: A disease involving the pupil.


colorectal cancer, susceptibility to, 1

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


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


name: mitochondrial complex IV deficiency, nuclear type 23


angiosarcoma of the scalp

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


factor XI deficiency, domestic cat

description: Factor XI deficiency that occurs in domestic cat.


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


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


name: intellectual developmental disorder, autosomal recessive 72


name: congenital muscular dystrophy due to LMNA mutation

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


name: dihydropyrimidinase deficiency, non-human animal

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


name: isolated hereditary congenital facial paralysis

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


Krabbe disease, domestic cat

description: Krabbe disease that occurs in domestic cat.


classic Kaposi sarcoma

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


name: autosomal recessive congenital ichthyosis 3

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


trypanosomiasis, non-human animal

description: Trypanosomiasis that occurs in non-human animals.


brachydactyly, chicken

description: Brachydactyly that occurs in chicken.


name: striatal degeneration, autosomal dominant

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


ribbing disease

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


name: polycystic ovaries-urethral sphincter dysfunction syndrome

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


Y-linked disease

description: Y-linked form of disease.


Perrault syndrome 2

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


name: neuromyelitis optica spectrum disorder with anti-MOG antibodies


name: multiple paragangliomas associated with polycythemia


Charcot-Marie-Tooth disease type 2E

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


cor triatriatum sinister

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


argyria

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


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


congenital heart malformation

description: A disease that has its basis in the disruption of heart development.


mal de Meleda

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


Erdheim-Chester disease

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


sulfhemoglobinemia

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


Harrod syndrome

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


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


corneal endothelial dystrophy

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


MEGF8-related Carpenter syndrome

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


trichosporonosis

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


name: spondyloepiphyseal dysplasia, Reardon type

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


name: intellectual developmental disorder with hypotonia and behavioral abnormalities


name: hypoxanthine guanine phosphoribosyltransferase suppressor


intracranial arteriosclerosis

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


generalized anxiety disorder

description: An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.


paroxysmal dyskinesia, dog

description: Paroxysmal dyskinesia that occurs in dog.


name: mandibulofacial dysostosis with ptosis, autosomal dominant


prostate leiomyoma

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


name: familial congenital palsy of trochlear nerve

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


name: pituitary hormone deficiency, combined, 1

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


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

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


name: neurodevelopmental disorder with hypotonia and dysmorphic facies


name: palmoplantar keratoderma-esophageal carcinoma syndrome

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


neonatal leukemia

description: Leukemia that occurs during the neonatal period.


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


patent urachus, white rhinoceros

description: Patent urachus that occurs in white rhinoceros.


distal trisomy 13q

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


name: oculopharyngeal myopathy with leukoencephalopathy 1


name: combined oxidative phosphorylation deficiency 50


name: acute tricyclic antidepressant poisoning

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


name: otospondylomegaepiphyseal dysplasia, autosomal dominant

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


name: peroxisome biogenesis disorder due to PEX26 defect

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


leukemia, acute, X-linked

description: X-linked form of acute leukemia


granular corneal dystrophy type II

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


name: Krabbe disease due to saposin A deficiency


Farber lipogranulomatosis

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


name: adult-onset distal myopathy due to VCP mutation

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


retinitis pigmentosa 12

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


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

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


secondary trimethylaminuria

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


immunodeficiency 19

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


North Carolina macular dystrophy

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


postmenopausal osteoporosis

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


9q21.13 microdeletion syndrome

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


fibrosarcomatous osteosarcoma

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


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

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


Langerhans cell sarcoma

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


pigmented spindle cell nevus

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


pyruvate metabolism disorder

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


congenital pulmonary lymphangiectasia

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


Say-Barber-Miller syndrome

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


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


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


name: progressive scapulohumeroperoneal distal myopathy


screw worm infectious disease

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


name: radioulnar synostosis-developmental delay-hypotonia syndrome

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


autosomal anomaly

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


inherited neurodegenerative disorder

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


IVIC syndrome

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


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


respiratory system benign neoplasm

description: A benign neoplasm that involves the respiratory system.


split hand-foot malformation 2

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


name: neurodevelopmental disorder with seizures and gingival overgrowth


dourine

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


name: developmental and epileptic encephalopathy, 71


name: Carabelli anomaly of maxillary molar teeth


choroidal dystrophy, central areolar, 1

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


superficial Fibromatosis

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


name: succinic semialdehyde dehydrogenase deficiency

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


trochlear nerve disorder

description: A disease involving the trochlear nerve.


neurotic depression

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


Plasmodium ovale malaria

description: An malaria caused by infection with Plasmodium ovale.


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


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


neuromuscular disease

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


Morvan syndrome

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


atrial conduction disease

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


osteosclerotic plasma cell myeloma

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


name: Angelman syndrome due to maternal 15q11q13 deletion


disorder of polyamine metabolism

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


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


Aicardi-Goutieres syndrome

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


congenital myasthenic syndrome 8

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


name: ciliary discoordination due to random ciliary orientation


brucellosis

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


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


nocturnal asthma

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


Ross river fever

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


aromatase excess syndrome

description: Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.


name: common variable immunodeficiency, non-human animal

description: Common variable immunodeficiency that occurs in non-human animals.


name: intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies


childhood intracortical osteosarcoma

description: A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.


name: mitochondrial complex 2 deficiency, nuclear type 2


name: acrodermatitis enteropathica, domestic cat

description: Acrodermatitis enteropathica that occurs in domestic cat.


name: hereditary sensory and autonomic neuropathy type 5

description: Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.


Ulbright-Hodes syndrome

description: Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.


schizophrenia 12

description: A schizophrenia that has material basis in a mutation on chromosome 1p36.2.


description: BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.


name: ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

description: A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.


description: Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.


progressive familial heart block

description: A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.


malignant ovarian cyst

description: A cystic cancerous tumor arising from the ovary.


amyotrophic neuralgia

description: An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.


periventricular nodular heterotopia 7

description: Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.


Charlevoix-Saguenay spastic ataxia

description: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.


Desbuquois dysplasia 1

description: Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.


name: mitochondrial complex 1 deficiency, nuclear type 37


name: mitochondrial complex IV deficiency, nuclear type 22


urolithiasis, Siberian chipmunk

description: Urolithiasis that occurs in Siberian chipmunk.


primary antiphospholipid syndrome

description: An antiphospholipid syndrome that occurs as an isolated disorder.


acromelic frontonasal dysostosis

description: Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.


omodysplasia

description: Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.


acute myeloid leukemia, der12p

description: Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)


foix chavany Marie syndrome

description: Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.


TPM4-related platelet disorder

description: A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.


superficial mycosis

description: A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.


cardiovirus infectious disease

description: Infections caused by viruses of the genus cardiovirus, family picornaviridae.


name: congenital aneurysms of the great vessels


name: ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type

description: Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.


name: encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency


narcolepsy, non-human animal

description: Narcolepsy that occurs in non-human animals.


name: agenesis of the corpus callosum and congenital lymphedema


name: maternally-inherited progressive external ophthalmoplegia


pontocerebellar hypoplasia type 4

description: Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.


tactile agnosia

description: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.


name: neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities


tinea favosa

description: A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.


name: combined oxidative phosphorylation defect type 13

description: Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.


name: acquired angioedema with C1Inh deficiency


amusia

description: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.


Huntington disease

description: Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.


name: epilepsy, familial focal, with variable foci 3

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.


premature ovarian failure 8

description: Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.


paraneoplastic hematological syndrome

description: Paraneoplastic syndrome that involves the hematopoietic system.


protoporphyria, non-human animal

description: Protoporphyria that occurs in non-human animals.


Leber congenital amaurosis 4

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.


name: intellectual disability, autosomal recessive 47

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.


name: creases, infra-auricular cutaneous, with tall stature and advanced bone age


name: ataxia with myoclonic epilepsy and presenile dementia


syphilitic aortitis

description: Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.


name: dyskeratosis congenita, autosomal dominant 2

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.


distal trisomy 20q

description: Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.


butterfly-shaped pigment dystrophy

description: A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.


hypoactive sexual desire disorder

description: A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.


Senior-Boichis syndrome

description: Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.


neonatal iodine exposure

description: A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates.


platelet-type bleeding disorder 10

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.


name: neurodevelopmental disorder with neuromuscular and skeletal abnormalities


name: immunodeficiency 94 with autoinflammation and dysmorphic facies


name: paroxysmal familial ventricular fibrillation

description: A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.


citrullinemia

description: Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).


NYX-related retinopathy

description: An X-linked retinopathy caused by variants in the NYX gene.


giant axonal neuropathy, dog

description: Giant axonal neuropathy that occurs in dog.


name: hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


name: SMARCC1-associated developmental dysgenesis syndrome

description: Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects.


name: dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema


pyrimidine metabolism disease

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


name: disorder of lysosomal-related organelles


name: retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

description: An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.


aortic arch interruption

description: Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.


myostatin-related muscle hypertrophy

description: Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.


name: autosomal semi-dominant severe lipodystrophic laminopathy


Beemer-Langer syndrome

description: Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.


familial goiter, non-human animal

description: Familial goiter that occurs in non-human animals.


vascular bone neoplasm

description: A benign, intermediate, or malignant vascular neoplasm that arises from the bone.


name: congenital disorder of glycosylation, type ICC


name: hypotonia, ataxia, and delayed development syndrome


anti-HLA hyperimmunization

description: Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.


Senior-Loken syndrome 7

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


poultry disease

description: Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild.


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


myoclonus, familial, 2

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


pyruvate kinase hyperactivity

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


name: autosomal dominant nocturnal frontal lobe epilepsy 1

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


clivus chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.


sporadic amyotrophic lateral sclerosis

description: Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.


autosomal dominant titinopathy

description: Autosomal dominant form of TTN-related myopathy.


fibroepithelial polyp

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


gas gangrene

description: A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.


AA amyloidosis, Sumatran tiger

description: AA amyloidosis that occurs in Sumatran tiger.


galactosialidosis

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


osteopetrosis, ass

description: Osteopetrosis that occurs in ass.


autosomal recessive spastic ataxia

description: Autosomal recessive form of spastic ataxia.


name: electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon


name: blepharophimosis-ptosis-epicanthus inversus syndrome plus


Murray valley encephalitis

description: An disease caused by infection with Murray Valley encephalitis virus.


name: severe combined immunodeficiency due to CARD11 deficiency

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


paramedian nasal cleft

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


EYS-related retinopathy

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


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


fournier gangrene

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


Alzheimer disease 10

description: An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.


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

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


Woodhouse-Sakati syndrome

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


pneumothorax, domestic cat

description: Pneumothorax that occurs in domestic cat.


hyperparathyroidism, horse

description: Hyperparathyroidism that occurs in horse.


corneal edema

description: Hazy, swollen cornea.


pili bifurcati

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


name: peroxisome biogenesis disorder due to PEX14 defect

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


name: maternal uniparental disomy of chromosome 14

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


name: vas deferens, congenital unilateral aplasia of


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

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


phakomatosis pigmentokeratotica

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


intellectual disability, X-linked 91

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


encephalomyelitis, enzootic porcine

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


name: congenital absence of both forearm and hand, unilateral

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


epilepsy, rabbit

description: Epilepsy that occurs in rabbit.


spinocerebellar ataxia type 4

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


Trichomonas tenax infectious disease

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


ulnar neuropathy

description: Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)


name: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

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


glossopharyngeal nerve neoplasm

description: A neoplasm involving a glossopharyngeal nerve.


pseudohypoaldosteronism type 1

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


description: X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.


retinitis pigmentosa 56

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


immunodeficiency, common variable, 10

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


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

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


ring chromosome 2

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


holoprosencephaly 11

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


angioid streaks of choroid

description: A angioid streaks that involves the optic choroid.


tertiary syphilis

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


benign neoplasm of cerebrum

description: A benign neoplasm that involves the telencephalon.


isolated optic nerve aplasia

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


foramen magnum meningioma

description: A meningioma that affects the foramen magnum.


name: Leber hereditary optic neuropathy, autosomal recessive


pregnancy associated osteoporosis

description: A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.


name: peroxisome biogenesis disorder due to PEX5 defect

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


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


name: pyruvate kinase deficiency of erythrocyte, dog

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


paroxysmal extreme pain disorder

description: Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.


systolic heart failure

description: Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.


supraglottis neoplasm

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


rhizomelic chondrodysplasia punctata

description: Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.


ovarian ectopic pregnancy

description: An abnormal pregnancy in which the conception is implanted on the ovary.


name: developmental and epileptic encephalopathy, 50

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


mitochondrial DNA depletion syndrome 8a

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


Rotavirus infection

description: Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.


description: Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.


neonatal sepsis

description: Bacterial infection in the bloodstream of newborn infants younger than 28 days old.


oculodentodigital dysplasia

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


familial amyotrophic lateral sclerosis

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


name: hereditary progressive mucinous histiocytosis

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


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


lameness, non-human animal

description: A departure from the normal gait in animals.


name: taurodontia-absent teeth-sparse hair syndrome

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


urinary bladder tuberculosis

description: A tuberculosis that involves the urinary bladder.


congenital pseudoarthrosis of the tibia

description: A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.


lingual goiter

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


Coronaviridae infectious disease

description: Virus diseases caused by coronaviridae.


primary ciliary dyskinesia 15

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


GATA1-Related X-Linked Cytopenia

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


name: partial trisomy of the long arm of chromosome 5

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


name: atrial septal defect, secundum, with various cardiac and Noncardiac defects


fungal keratitis

description: Keratitis caused by fungi.


Perrault syndrome 4

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


headache disorder

description: Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)


name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2


name: xeroderma pigmentosum, type G/Cockayne syndrome


beta thalassemia

description: Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).


ABri amyloidosis

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


atopic dermatitis, non-human animal

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


hereditary epidermal appendage anomaly

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


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


name: juvenile idiopathic inflammatory myopathy


name: hemophagocytic lymphohistiocytosis due to RhoG deficiency

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


hyperekplexia 1

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


name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1


name: hypophosphatemic rickets and hyperparathyroidism


name: mitochondrial complex 1 deficiency, nuclear type 31


trimethylaminuria (fishy taint), cattle

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


name: microcephaly, facial abnormalities, micromelia, and intellectual disability


onchocerciasis

description: Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.


febrile seizures, familial, 8

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


microphthalmia, non-human animal

description: Microphthalmia that occurs in non-human animals.


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


anaplastic cancer

description: A malignant neoplasm characterized by the presence of poorly differentiated, often large neoplastic cells with bizarre morphologic characteristics, associated with high mitotic activity and necrotic changes.


name: retinitis pigmentosa inversa with deafness


name: leukoencephalopathy, hereditary diffuse, with spheroids


name: developmental and epileptic encephalopathy, 34

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


name: leukodystrophy, hypomyelinating, 19, transient infantile


name: cerebral amyloid angiopathy, APP-related

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


name: intellectual developmental disorder, autosomal recessive 78


intellectual disability, X-linked 45

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


bone angiosarcoma

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


vestibulocochlear nerve neoplasm

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


uterine inversion

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


name: anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome


name: mitochondrial DNA depletion syndrome, encephalomyopathic form

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


neuronal ceroid lipofuscinosis 3

description: A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


sensory ataxia

description: Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction.


name: polycystic kidney disease, Western roe deer

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


MECOM-associated syndrome

description: Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.


name: high myopia-sensorineural deafness syndrome

description: High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.


name: black locks with albinism and deafness syndrome


name: microcephaly 17, primary, autosomal recessive

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


name: autosomal dominant hypophosphatemic rickets

description: Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.


name: rhizomelic chondrodysplasia punctata type 1

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


name: cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss


Pediculus humanus capitis infestation

description: A infectious disease involving Pediculus humanus capitis.


mink viral enteritis

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


prepuce cancer

description: A malignant neoplasm involving the prepuce.


torsion dystonia 6

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


name: autosomal recessive nonsyndromic hearing loss 84B

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


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

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


name: developmental and epileptic encephalopathy, 68


sporadic Creutzfeld Jacob disease

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


ACys amyloidosis

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


late-adult onset retinitis pigmentosa

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


non-herpetic acute limbic encephalitis

description: Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.


tubal pregnancy

description: An abnormal pregnancy in which the conception is implanted in the fallopian tube.


kidney angiomyolipoma

description: An angiomyolipoma arising from the kidney.