neuroferritinopathy

description: Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.


Barber-Say syndrome

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

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


thrombocytopenia 5

description: Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.


spondylocarpotarsal synostosis syndrome

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


chronic dacryoadenitis

description: Chronic form of dacryoadenitis.


name: chromosome 1, uniparental disomy 1q12 q21


name: Charcot-Marie-Tooth disease recessive intermediate D

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


name: diaphragmatic hernia exomphalos corpus callosum agenesis


bathing suit ichthyosis

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


name: non-amyloid monoclonal immunoglobulin deposition disease


name: neuronopathy, distal hereditary motor, type 5B

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


focal facial dermal dysplasia type II

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


name: developmental and epileptic encephalopathy, 82


celiac trunk compression syndrome

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


name: disorder of galactose and fructose metabolism

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


premature ovarian failure 5

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


RDH12-related recessive retinopathy

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


name: combined oxidative phosphorylation defect type 15

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


name: bleeding diathesis due to thromboxane synthesis deficiency

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


Alzheimer disease 8

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


synovium cancer

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


WAGR syndrome

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


Freiberg disease

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


anterior urethra cancer

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


name: erythrokeratodermia variabilis et progressiva 7


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


name: mitochondrial complex 4 deficiency, nuclear type 3


lichen planus, oral

description: A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.


pseudoachondroplasia

description: Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.


benign mixed tumor of the vulva

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


GPR143-related foveal hypoplasia

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


retinitis pigmentosa 23

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


Bardet-Biedl syndrome 5

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


name: intellectual developmental disorder, autosomal dominant 73


adrenal medulla cancer

description: A malignant neoplasm involving the adrenal medulla


amyotrophic lateral sclerosis type 18

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


osteogenesis imperfecta type 16

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


name: mitochondrial complex 1 deficiency, nuclear type 10


acute disease, non-human animal

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


nonsyndromic congenital nail disorder 3

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


name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance

description: A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)


renal agenesis, domestic cat

description: Renal agenesis that occurs in domestic cat.


benign neoplasm of pituitary gland

description: A benign neoplasm that involves the pituitary gland.


monogenic alpha thalassemia spectrum

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


pericardial effusion, chronic

description: Chronic form of pericardial effusion (disease).


childhood gonadal germ cell tumor

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


auditory agnosia

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


primary ciliary dyskinesia 27

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


paraneoplastic neurologic syndrome

description: A paraneoplastic syndrome that involves the nervous system.


name: SBDS-related severe neonatal spondylometaphyseal dysplasia


physiological sexual disorder

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


name: congenital pseudoarthrosis of the radius


name: mitochondrial complex 1 deficiency, nuclear type 24


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

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


combined dystonia

description: A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).


isolated cleft palate

description: A cleft palate that is not part of a larger syndrome.


name: primitive neuroectodermal tumor of the cervix uteri

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


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


name: ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet


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


name: benign peritoneal solitary fibrous tumor

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


Weill-Marchesani syndrome 2, dominant

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


name: intellectual disability, autosomal recessive 43

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


atrial fibrillation, familial, 11

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


name: thrombocytopenia, anemia, and myelofibrosis


hereditary neoplastic syndrome

description: The inherited predisposition toward getting a tumor.


Wilson disease, cattle

description: Wilson disease that occurs in cattle.


generalized pustular psoriasis

description: A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.


Yunis-Varon syndrome

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


hemophilia B

description: Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.


acute mountain sickness

description: Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.


name: maternal uniparental disomy of chromosome 16


name: developmental defect during embryogenesis, non-human animal

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


epilepsy-telangiectasia syndrome

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


name: metaphyseal chondrodysplasia, Spahr type


coloboma, dog

description: Coloboma that occurs in dog.


gonococcal spondylitis

description: An spondylitis caused by infection with Neisseria gonorrhoeae.


name: trichomegaly-retina pigmentary degeneration-dwarfism syndrome

description: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.


diaphragm disorder

description: A disease involving the diaphragm.


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


melanoma associated retinopathy

description: Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.


encephalocraniocutaneous lipomatosis

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


name: metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands


rabies

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


name: imperforate oropharynx-costo vetebral anomalies syndrome

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


caudal regression sequence

description: Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.


name: global developmental delay, progressive ataxia, and elevated glutamine


Seckel syndrome 7

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


T-B+ severe combined immunodeficiency

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


poult enteritis mortality syndrome

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


cranial neuralgia

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


name: developmental and epileptic encephalopathy, 80


enterovirus infectious disease

description: An disease caused by infection with Enterovirus.


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


name: short stature-craniofacial anomalies-genital hypoplasia syndrome

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


Joubert syndrome 15

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


BCOR ITD sarcoma

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


Meckel diverticulum, horse

description: Meckel diverticulum that occurs in horse.


encephalomyelitis

description: Inflammation of the brain and the spinal cord.


Wallerian degeneration

description: A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.


name: lethal congenital contracture syndrome 2

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


name: tremor, hereditary essential, and idiopathic normal pressure hydrocephalus


advanced sleep phase syndrome 3

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


name: microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome


name: blepharophimosis - intellectual disability syndrome, MKB type

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


Bjornstad syndrome

description: Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.


name: malignant peritoneal solitary fibrous tumor

description: A malignant form of peritoneal solitary fibrous tumor.


name: autoimmune lymphoproliferative syndrome, non-human animal

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


congenital bile acid synthesis defect 3

description: Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.


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

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


lysosomal lipid storage disorder

description: An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.


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

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


galactose epimerase deficiency

description: Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.


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


Peutz-Jeghers syndrome

description: Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.


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

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


name: neurodevelopmental disorder with hypotonia, neuropathy, and deafness


Keutel syndrome

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


name: congenital disorder of glycosylation, type Ibb


infectious myxomatosis

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


familial porencephaly

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


name: global developmental delay-osteopenia-ectodermal defect syndrome

description: This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies.


name: hepatic encephalopathy, non-human animal

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


name: mitochondrial DNA depletion syndrome, hepatocerebral form


hookworm infectious disease

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


variant ABeta2M amyloidosis

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


ehrlichiosis, non-human animal

description: Ehrlichiosis that occurs in non-human animals.


vascular dementia

description: A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions.


early congenital syphilis

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


muscular dystrophy, chicken

description: Muscular dystrophy that occurs in chicken.


name: combined oxidative phosphorylation defect type 17

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


Doyne honeycomb retinal dystrophy

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


trigonocephaly 2

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


spermatogenic failure 12

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


skull neoplasm

description: A benign or malignant neoplasm that affects the bones and structures of the skull.


name: periodic fever, immunodeficiency, and thrombocytopenia syndrome


name: helicoid peripapillary chorioretinal degeneration

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


name: microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

description: This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.


trisomy 10p

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


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

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


intellectual disability, X-linked 19

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


name: combined oxidative phosphorylation deficiency 45


immunodeficiency 67

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


Gaisbock syndrome

description: Polycythemia that is caused by stress.


CPOX-related hereditary coproporphyria

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


name: phosphoenolpyruvate carboxykinase deficiency, mitochondrial


name: atypical Fanconi syndrome-neonatal hyperinsulinism syndrome


brain hypoxia - ischemia

description: A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.


name: neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia


medulloblastoma non-WNT/non-SHH group 4

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


name: autosomal recessive spondylocostal dysostosis

description: Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.


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


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


name: cognitive impairment with or without cerebellar ataxia


name: nephrogenic syndrome of inappropriate antidiuresis

description: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.


inherited dystonia

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


urolithiasis, Dusky leaf-monkey

description: Urolithiasis that occurs in Dusky leaf-monkey.


name: hypercarotenemia and vitamin A deficiency, autosomal recessive


plantar nerve lesion

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


null syndrome

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


name: Bietti crystalline corneoretinal dystrophy

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


hereditary spastic paraplegia 11

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


D-glyceric aciduria

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


hypotrichosis simplex

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


cutaneous porphyria

description: Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.


idiopathic hypersomnia

description: Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.


name: oculocerebral hypopigmentation syndrome of Preus


Singleton-Merten dysplasia

description: Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).


osteogenesis imperfecta, type 19

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


trachea leiomyoma

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


name: coloboma of macula-brachydactyly type B syndrome

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


dilated cardiomyopathy, cattle

description: Dilated cardiomyopathy that occurs in cattle.


accessory tricuspid valve tissue

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


retinitis pigmentosa, pig

description: Retinitis pigmentosa that occurs in pig.


thinking seizures

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


name: neurodevelopmental disorder with hypotonia and seizures


glycine metabolism disease

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


Charcot-Marie-Tooth disease type 2B2

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


pyridoxine-dependent epilepsy

description: A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).


name: epidermolysis bullosa simplex 2F, with mottled pigmentation

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


oculocerebrocutaneous syndrome

description: Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.


microphthalmia, Eastern wapiti

description: Microphthalmia that occurs in Eastern wapiti.


acral persistent papular mucinosis

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


neuronal ceroid lipofuscinosis

description: A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.


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


name: microcephaly-cardiac defect-lung malsegmentation syndrome

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


spontaneous periodic hypothermia

description: Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.


scalp-ear-nipple syndrome

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


name: craniofacial dysplasia - osteopenia syndrome


central nervous system AIDS arteritis

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


description: Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.


name: craniometadiaphyseal osteosclerosis with hip dysplasia


acute basophilic leukemia

description: A rare acute myeloid leukemia in which the immature cells differentiate towards basophils.


D,L-2-hydroxyglutaric aciduria

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


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


name: autosomal recessive spastic paraplegia type 76

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


congenital hypothyroidism, dog

description: Congenital hypothyroidism that occurs in dog.


acid sphingomyelinase deficiency

description: An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.


spinal muscular atrophy, dog

description: Spinal muscular atrophy that occurs in dog.


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


name: hypogonadism with low-grade mental deficiency and microcephaly


allergic contact dermatitis of eyelid

description: A allergic contact dermatitis that involves the eyelid.


bovine respiratory disease complex

description: A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents.


name: fatty acid hydroxylase-associated neurodegeneration

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


name: PPARG-related familial partial lipodystrophy


name: isolated congenital hypogonadotropic hypogonadism

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


name: hereditary disorder of connective tissue

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


epidural abscess

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


name: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome


inherited sideroblastic anemia

description: An inherited form of sideroblastic anemia.


atherosclerosis, rock pigeon

description: Atherosclerosis that occurs in rock pigeon.


Wilson disease

description: A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.


name: developmental and epileptic encephalopathy, 42

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


pontocerebellar hypoplasia type 2

description: Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.


canine melanoma

description: Melanoma occurring in a dog. It is the most common malignant tumor found in the mouths of dogs and also occurs frequently on the digits. All canine melanomas are locally invasive and malignant canine melanomas show a high rate of metastasis. Melanoma in dogs has been established as a relevant model for human melanoma.


mandibuloacral dysplasia

description: Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.


calcium-alkali syndrome

description: The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.


name: Yersinia enterocolitica infectious disease


name: symptomatic form of hemophilia A in female carriers

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


name: neurodegeneration with brain iron accumulation 7


Colorado tick fever

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


name: neuropathy, congenital hypomyelinating, 3


myopathy caused by variation in POMGNT1

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


name: peroxisomal single enzyme/protein defect

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


name: autosomal recessive nonsyndromic hearing loss 35

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


distal myopathy, Tateyama type

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


mite infestation

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


anterior segment dysgenesis 7

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


vector-borne disease, non-human animal

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


name: non-syndromic non-specific multisutural craniosynostosis


infectious ectromelia

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


hereditary spastic paraplegia 74

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


osteosarcoma, non-human animal

description: Osteosarcoma that occurs in non-human animals.


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

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


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

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


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


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


vertebral joint disorder

description: A disease that involves the intervertebral joint.


infectious epithelial keratitis

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


erythrokeratoderma en cocardes

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


name: gaze palsy, familial horizontal, with progressive scoliosis, 2


formiminoglutamic aciduria

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


accessory nerve disorder

description: A disease involving the accessory XI nerve.


chromosome 15q26-qter deletion syndrome

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


immunoglobulin A deficiency 2

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


Meckel syndrome, type 1

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


pediatric multiple sclerosis

description: Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.


brain small vessel disease 3

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


name: combined oxidative phosphorylation deficiency 47


name: basal ganglia calcification, idiopathic, childhood-onset


optic perineuritis

description: A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disk edema is observed in most cases. The condition is usually unilateral.


name: spastic paraplegia 88, autosomal dominant


RYR1-related myopathy

description: A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.


adenomyoma

description: A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.


Drachtman Weinblatt Sitarz syndrome

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


uterine corpus sarcoma

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


cystitis cystica

description: A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.


spastic cerebral palsy

description: A form of cerebral palsy wherein spasticity is the exclusive impairment present.


hereditary hypoparathyroidism

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


rheumatic pulmonary valve disease

description: A rheumatologic disorder that involves the pulmonary valve.


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


hyperprolinemia type 2

description: Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.


cleft lip and alveolus

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


Plasmodium falciparum malaria

description: Malaria resulting from infection by Plasmodium falciparum.


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


ring chromosome disorder

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


mitochondrial disease, non-human animal

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


RDH12-related dominant retinopathy

description: A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.


name: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies


name: Usmani-Riazuddin syndrome, autosomal dominant


orbit lymphoma

description: A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.


nosophobia

description: A specific phobia that involves an irrational fear of contracting a disease.


name: fatal infantile hypertonic myofibrillar myopathy


prolidase deficiency

description: An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.


name: Parvoviridae infectious disease, non-human animal

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


ring chromosome 12

description: Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.


advanced sleep phase syndrome 2

description: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.


sarcoma, non-human animal

description: Sarcoma that occurs in non-human animals.


name: intellectual disability, autosomal dominant 47


name: microcephaly 24, primary, autosomal recessive


name: foveal hypoplasia-presenile cataract syndrome


chromosome 1q41-q42 deletion syndrome

description: 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.


name: arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum


mycosis fungoides and variants

description: Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.


name: serine biosynthesis pathway deficiency, infantile/juvenile form


acquired xanthinuria

description: Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.


name: autosomal recessive nonsyndromic hearing loss 12

description: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.


name: blepharophimosis-impaired intellectual development syndrome


distal myopathy

description: Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.


name: autosomal recessive secondary polycythemia not associated with VHL gene


bone development disease

description: A disease involving the bone development.


placental insufficiency

description: Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus.


name: short-rib thoracic dysplasia 21 without polydactyly


name: partial duplication of the long arm of chromosome 15

description: Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


name: hypogonadotropic hypogonadism 15 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.


name: spondyloepiphyseal dysplasia, nishimura type


name: syndactyly-telecanthus-anogenital and renal malformations syndrome

description: This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.


immunodeficiency 18

description: Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.


RP1-related dominant retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the RP1 gene.


name: spondyloepimetaphyseal dysplasia, Krakow type


description: Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.


simultanagnosia

description: An agnosia that is a loss of the ability to recognize a whole image or scene while retaining the ability to recognize objects or details in their visual field one at a time.


Weill-Marchesani syndrome 1

description: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.


choanal atresia, dog

description: Choanal atresia that occurs in dog.


familial adenomatous polyposis 2

description: An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.


adult fibrosarcoma

description: A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.


name: neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline


splenic hodgkin lymphoma

description: A rare Hodgkin lymphoma that arises from the spleen.


name: pharyngeal-cervical-brachial variant of Guillain-Barre syndrome


pseudodiastrophic dysplasia

description: Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.


name: progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

description: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.


flying phobia

description: An overwhelming, irrational, and persistent fear of traveling in an aircraft.


name: arthrogryposis-hyperkeratosis syndrome, lethal form

description: Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.


name: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome


hypoparathyroidism, dog

description: Hypoparathyroidism that occurs in dog.


name: progressive bifocal chorioretinal atrophy

description: Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.


benign neoplasm of lymph node

description: A benign neoplasm that involves the lymph node.


keratitis, horse

description: Keratitis that occurs in horse.


name: autosomal recessive congenital ichthyosis 6

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.


name: familial cold autoinflammatory syndrome 4

description: Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.


non-24-hour sleep-wake syndrome

description: Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.


name: pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome


SchC6pf-Schulz-Passarge syndrome

description: A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.


hereditary photodermatosis

description: Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.


Wernicke encephalopathy

description: An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)


BAFopathy

description: Disorder caused by mutations in the various subunits composing the BAF complex.


name: growth hormone insensitivity with immune dysregulation 1, autosomal recessive


name: deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


benign neoplasm of major salivary gland

description: A benign neoplasm that involves the major salivary gland.


name: postaxial polydactyly type B, unilateral


X-linked recessive ocular albinism

description: X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.


name: intellectual disability, autosomal dominant 24

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.


name: autosomal recessive nonsyndromic hearing loss 61

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.


name: adrenocortical hypofunction, chronic primary congenital


name: agammaglobulinemia 2, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.


cattle disease

description: Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.


catamenial pneumothorax

description: Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.


acute mast cell leukemia

description: A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.


aspirin-induced respiratory disease

description: An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.


lysosomal storage disease, cattle

description: Lysosomal storage disease that occurs in cattle.


acrocapitofemoral dysplasia

description: Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.


name: mitochondrial complex 1 deficiency, nuclear type 18


osteomesopyknosis

description: Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.


chromosome 7 disorder

description: Chromosomal disorder in which chromosome 7 is affected.


name: acinar dysplasia caused by mutation in FGFR2

description: Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.


gonadal agenesis

description: A congenital disorder characterized by the complete absence of gonadal tissue.


neuroectodermal melanolysosomal disease

description: Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment.


humerus trochlea aplasia

description: Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.


spinal arachnoiditis

description: A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.


Seckel syndrome 2

description: Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.


name: retinal dystrophies primarily involving Bruch's membrane

description: A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.


KCNH1 associated disorder

description: Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.


name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures

description: An osteogenesis imperfecta found in a single South African family.


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 7


name: obesity due to pro-opiomelanocortin deficiency

description: Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.


syndromic dyslipidemia

description: A inherited lipid metabolism disorder that is part of a larger syndrome.


name: persistent hyperplastic primary vitreous, autosomal recessive

description: Autosomal recessive form of persistent hyperplastic primary vitreous.


name: tall stature-intellectual disability-renal anomalies syndrome


osteoarthritis, sheep

description: Osteoarthritis that occurs in sheep.


bladder dome cancer

description: Cancer of the upper, convex surface of the bladder.


name: familial primary hypomagnesemia with hypocalcuria


name: finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome


mesothelioma

description: A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.


description: Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.


classic homocystinuria

description: Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.


name: acute myeloid leukemia, WT1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)


mitral valve stenosis, domestic cat

description: Mitral valve stenosis that occurs in domestic cat.


name: Klippel-Feil syndrome 2, autosomal recessive

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.


anophthalmia plus syndrome

description: Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.


name: X-linked complicated spastic paraplegia type 1

description: An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.


fish disease

description: Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).


musculoskeletal system benign neoplasm

description: A benign neoplasm that involves the musculoskeletal system.


habitual spontaneous abortion

description: Three or more consecutive spontaneous abortions.


name: congenital anomaly of cardiovascular system

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


name: qualitative or quantitative defects of dystrophin


polyomavirus infectious disease

description: Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).


essential iris atrophy

description: Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.


name: short stature with nonspecific skeletal abnormalities


congenital analbuminemia

description: Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).


name: DDOST-congenital disorder of glycosylation

description: DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).


otopalatodigital syndrome type 2

description: A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.


name: renal tubular dysgenesis due to twin-twin transfusion

description: An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).


paranasal sinus disorder

description: A disease involving the paranasal sinus.


lumbar disk disease

description: A vertebral column disorder caused by degeneration of intervertebral disks of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.


Treponema infectious disease

description: An disease caused by infection with Treponema.


name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

description: An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.


spinocerebellar ataxia type 13

description: Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.


name: developmental delay with variable intellectual disability and dysmorphic facies


malignant syringoma

description: A malignant form of syringoma.


adult malignant mesenchymoma

description: A malignant mesenchymoma occurring in adults.


autoimmune hemolytic anemia, warm type

description: Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).


monkeypox

description: An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.


name: acute myeloid leukemia, t(10;11)(p11.2;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)


hereditary spastic paraplegia 41

description: Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.


name: glycogen storage disease due to aldolase A deficiency

description: Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.


western equine encephalitis

description: An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.


name: polymorphous low grade neuroepithelial tumor of the young

description: A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.


scrotum cancer

description: A primary or metastatic malignant neoplasm affecting the scrotum.


segmental odontomaxillary dysplasia

description: Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.


leukodystrophy, American mink

description: Leukodystrophy that occurs in American mink.


name: mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


name: mandibulofacial dysostosis with alopecia

description: A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.


hereditary motor and sensory neuropathy

description: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)


acral self-healing collodion baby

description: Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.


name: congenital pulmonary airway malformation type 4


Smith-McCort dysplasia

description: Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.


conversion disorder

description: Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve.


name: autosomal recessive nonsyndromic hearing loss 83

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.


bizarre leiomyoma

description: A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.


name: acute myeloid leukemia, monoallelic CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)


specific granule deficiency 2

description: Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).


name: mammary gland disorder, non-human animal

description: Mammary gland disorder that occurs in non-human animals.


name: scapuloperoneal spinal muscular atrophy, autosomal recessive


blackwater fever

description: A complication of malaria resulting from hemolysis.


name: spastic ataxia-corneal dystrophy syndrome

description: Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.


brachydactyly type A7

description: Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.


Yao syndrome

description: An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants.


inborn disorder of ornithine metabolism

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


postprandial hypotension

description: Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous system for the diversion of blood to the intestines.


Filippi syndrome

description: Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.


hypothalamic disorder

description: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.


name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


name: leukoencephalopathy with calcifications and cysts


acute disseminated encephalomyelitis

description: Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.


horse disease

description: Diseases of domestic and wild horses of the species Equus caballus.


optic nerve neoplasm

description: Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.


adult Refsum disease due to PEX7 defect

description: An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.


IDH3B-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.


inherited primary ovarian failure

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


retrograde cricopharyngeus dysfunction

description: A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD.


atrial septal defect, koala

description: Atrial septal defect that occurs in koala.


intermittent asthma

description: A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.


name: neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


name: mitochondrial complex III deficiency, nuclear type


Riley-Day syndrome

description: A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.


craniofacial-deafness-hand syndrome

description: Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.


name: congenital contractures of the limbs and face, hypotonia, and developmental delay

description: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.


amyotrophic lateral sclerosis type 9

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