myoclonic dystonia 15

description: A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.


autosomal dominant wooly hair

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


distal trisomy 17q

description: Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.


herpes labialis

description: A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region.


name: Tessadori-van Haaften neurodevelopmental syndrome 2


name: chondrodysplasia punctata with steroid sulfatase deficiency


name: congenital heart defects, multiple types


bladder lateral wall cancer

description: The aspect of the bladder wall that is located on the side.


congenital unguarded mitral orifice

description: Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.


cubital tunnel syndrome

description: Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)


indomethacin embryofetopathy

description: Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.


name: anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

description: This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.


polycystic kidney disease, domestic cat

description: Polycystic kidney disease that occurs in domestic cat.


angioosteohypotrophic syndrome

description: Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.


name: congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

description: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterized by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.


name: bile and pancreatic ducts, complete absence of


osteopetrosis, Japanese quail

description: Osteopetrosis that occurs in Japanese quail.


herpes zoster dermatitis

description: Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.


trilateral retinoblastoma

description: Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).


palpebral nevus

description: A melanocytic nevus that involves the skin of eyelid.


description: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).


name: deafness-ear malformation-facial palsy syndrome

description: Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.


aortic valve disorder

description: A disease involving the aortic valve.


nosocomial infection

description: An infection acquired in a hospital or other healthcare setting.


uterine benign neoplasm

description: A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.


name: visual impairment and progressive phthisis bulbi


name: craniosynostosis syndrome, autosomal recessive

description: Autosomal recessive form of craniosynostosis.


name: epileptic encephalopathy, infantile or early childhood, 2


name: erythropoietic uroporphyria associated with myeloid malignancy


acute adrenal insufficiency

description: Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.


keratitis, dog

description: Keratitis that occurs in dog.


foot and mouth disease

description: A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness.


acute hemorrhagic encephalitis

description: Acute encephalitis that is characterized by bleeding.


name: autosomal dominant aplasia and myelodysplasia


epithelioid hemangioendothelioma

description: A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.


name: Herpesviridae infectious disease, non-human animal

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


name: neurodevelopmental disorder with hearing loss and spasticity


retinitis pigmentosa 54

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


description: Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.


name: hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate


congenital supravalvular mitral ring

description: Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.


name: dysmorphism-cleft palate-loose skin syndrome

description: Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.


McLeod neuroacanthocytosis syndrome

description: A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.


NDE1-related microhydranencephaly

description: NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.


name: autosomal recessive nonsyndromic hearing loss 3

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.


lethal Larsen-like syndrome

description: Larsen-like syndrome, lethal type, is characterized by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.


name: peroxisome biogenesis disorder 10A (Zellweger)


corneal dystrophy, lattice type 3A

description: Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.


spastic paraparesis-deafness syndrome

description: Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterized by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.


name: basal ganglia calcification, idiopathic, 4


name: calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia


mucolipidosis type III, alpha/beta

description: Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.


name: pyruvate kinase deficiency of erythrocyte, non-human animal

description: Pyruvate kinase deficiency of erythrocyte that occurs in non-human animals.


patterned macular dystrophy 1

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


placental villitis

description: Inflammatory process that involves the chorionic villi (villitis) of the placenta.


benign mastocytoma

description: A localized mast cell neoplasm without metastatic potential.


description: Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.


X-linked spinocerebellar ataxia type 3

description: A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 7

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.


cranioectodermal dysplasia 1

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.


Weaver-Williams syndrome

description: Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.


name: PRKAR1B-related neurodegenerative dementia with intermediate filaments


bilineal acute myeloid leukemia

description: An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003


name: polydactyly of a triphalangeal thumb, bilateral


amyotrophic lateral sclerosis type 20

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.


toxoplasmosis

description: A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.


aquarium granuloma

description: A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure.


aromatase deficiency

description: Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.


AA amyloidosis, zebra finch

description: AA amyloidosis that occurs in zebra finch.


retinal degeneration, horse

description: Retinal degeneration that occurs in horse.


name: macrothrombocytopenia, isolated, 1, autosomal dominant

description: Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.


name: postaxial polydactyly-dental and vertebral anomalies syndrome

description: Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.


alcoholic ketoacidosis

description: An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occurring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.


name: progressive encephalomyelitis with rigidity and myoclonus


name: immunotactoid or fibrillary glomerulopathy

description: A group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.


name: viral infection of central nervous system


pulmonary hypertension, primary, 4

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.


collagen type III glomerulopathy

description: A rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed.


autoimmune thrombocytopenia, dog

description: Autoimmune thrombocytopenia that occurs in dog.


name: contractures-ectodermal dysplasia-cleft lip/palate syndrome

description: Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.


name: neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction


Meier-Gorlin syndrome 6

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.


name: microphthalmia, isolated, with coloboma 5

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.


description: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.


spinocerebellar ataxia type 6

description: Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.


mast syndrome

description: Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.


name: unilateral multicystic dysplastic kidney

description: Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.


Usher syndrome type 1F

description: A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.


name: developmental and epileptic encephalopathy, 84


gonococcal salpingitis

description: An salpingitis caused by infection with Neisseria gonorrhoeae.


subcorneal pustular dermatosis

description: A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.


acquired torsion dystonia

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


name: partial monosomy of the long arm of chromosome 9


name: fibrosis of extraocular muscles, congenital, 3b


childhood disintegrative disorder

description: A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.


renal hypoplasia, bilateral, pig

description: Renal hypoplasia, bilateral that occurs in pig.


name: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

description: Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.


name: infantile-onset X-linked spinal muscular atrophy

description: A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.


prostate stromal sarcoma

description: A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.


amyotrophic lateral sclerosis type 10

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


name: intellectual disability, autosomal recessive 46

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.


myofibrillar myopathy 8

description: Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.


name: neuropathy, hereditary sensory and autonomic, type 2B

description: Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.


complement component 9 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.


name: congenital alveolar dysplasia due to FGF10

description: Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.


macular amyloidosis

description: Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.


name: adolescent/adult onset autosomal dominant epilepsy with auditory features

description: A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.


description: PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.


atrophic rhinitis, pig

description: Atrophic rhinitis that occurs in pig.


name: idiopathic linear interstitial keratitis

description: Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.


name: arthrogryposis-ectodermal dysplasia-other anomalies syndrome


name: osteochondritis dissecans, non-human animal

description: Osteochondritis dissecans that occurs in non-human animals.


dysostosis, Stanescu type

description: Stanescu type dysostosis is a rare form of osteosclerosis.


spastic ataxia 4

description: Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.


fibroosseous pseudotumor of the digits

description: A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.


drug-resistant tuberculosis

description: Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications.


vascular ectasia

description: Dilatation of the blood vessels.


name: autosomal recessive distal spinal muscular atrophy 2

description: Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).


name: developmental and epileptic encephalopathy 6B


name: circumscribed cutaneous aplasia of the vertex


digitotalar dysmorphism

description: Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.


name: congenital mitral valve insufficiency and/or stenosis


ocular cicatricial pemphigoid

description: Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.


name: intellectual disability, autosomal dominant 20

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.


cataract 29

description: A cataract that has material basis in variation in the region 2pter-p24.


name: junctional epidermolysis bullosa with pyloric atresia

description: Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.


hypoplastic left heart syndrome 1

description: Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.


name: steroid-responsive encephalopathy associated with autoimmune thyroiditis


MASA syndrome

description: MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.


nasolacrimal duct cyst

description: Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.


name: complex neurodevelopmental disorder with motor features

description: A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.


name: lissencephaly and cerebellar hypoplasia, dog

description: Lissencephaly and cerebellar hypoplasia that occurs in dog.


name: neonatal intrahepatic cholestasis due to citrin deficiency

description: Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.


vertebral column disorder

description: A disease involving the vertebral column.


name: familial or sporadic hemiplegic migraine

description: Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).


Haim-Munk syndrome

description: Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.


name: congenital smooth muscle hamartoma, with or without hemihypertrophy


name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy

description: A precursor lymphoid neoplasm composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. It has a favorable clinical outcome.


irritant dermatitis

description: An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.


diprosopus, non-human animal

description: Diprosopus that occurs in non-human animals.


congenital bile acid synthesis defect 6

description: Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.


name: atypical dopamine transporter deficiency syndrome

description: A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development.


name: acute myeloid leukemia, t(10;11)(p12;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)


name: severe combined immunodeficiency due to CORO1A deficiency


odontochondrodysplasia 1

description: A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.


dysautonomia, dog

description: Dysautonomia that occurs in dog.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 2

description: An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.


name: suprabasal epidermolysis bullosa simplex

description: A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.


aspergillosis

description: Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.


atrial septal defect, domestic cat

description: Atrial septal defect that occurs in domestic cat.


acitretin/etretinate embryopathy

description: Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.


Bickerstaff brainstem encephalitis

description: Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).


name: hypogonadotropic hypogonadism 27 without anosmia


name: duplication of the thumb unilateral biphalangeal


name: overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

description: A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.


salpingitis isthmica nodosa

description: Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.


name: developmental and epileptic encephalopathy 111


name: juvenile cataract-microcornea-renal glucosuria syndrome

description: Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.


name: autosomal recessive spinocerebellar ataxia 16

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.


description: Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.


name: incessant infant ventricular tachycardia

description: Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.


thymic dysplasia

description: The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.


name: congenital dyserythropoietic anemia type 4

description: Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.


description: A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.


Jacobsen syndrome, cattle

description: Jacobsen syndrome that occurs in cattle.


name: taurodontism, microdontia, and dens invaginatus


Eales disease

description: Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.


atopic keratoconjunctivitis

description: Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.


name: proximal myopathy with extrapyramidal signs

description: Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.


name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2


name: severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency


familial syringomyelia

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


diprosopus

description: Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases.


symphalangism, proximal, 1B

description: Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.


name: partial duplication of the long arm of chromosome 12

description: Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


congenital achiasma

description: Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.


uremia

description: A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.


name: anti-neutrophil antibody associated vasculitis

description: Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.


name: ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant


name: epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase


name: hereditary motor and sensory neuropathy, Okinawa type

description: Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.


name: infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome


cor triatriatum dexter, dog

description: Cor triatriatum dexter that occurs in dog.


Mendelian neurodevelopmental disorder

description: A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.


name: lymphoblastic leukemia, acute, with lymphomatous features


fibrothecoma

description: A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma.


trichofolliculoma

description: Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 3

description: An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.


name: congenital vitamin K-dependent coagulation factors deficiency

description: Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.


name: hemolytic anemia with thermal sensitivity of red cells


description: Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.


progressive rubella panencephalitis

description: A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age.


name: nonimmune chronic idiopathic neutropenia of adults


glycine N-methyltransferase deficiency

description: Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.


name: pituitary hormone deficiency, combined, 6

description: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.


name: growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy


renal dysplasia, unilateral

description: Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.


alcohol-induced disorders

description: Disorders stemming from the misuse and abuse of alcohol.


adult choroid plexus neoplasm

description: A choroid plexus neoplasm that occurs in an adult.


Charcot-Marie-Tooth disease type 1D

description: A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.


Horner syndrome, domestic cat

description: Horner syndrome that occurs in domestic cat.


type II mixed cryoglobulinemia

description: Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).


name: cataract-intellectual disability-anal atresia-urinary defects syndrome

description: Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.


description: Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.


name: syndromic X-linked intellectual disability 14

description: Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.


name: hereditary sensory and autonomic neuropathy type 1

description: Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.


osteochondrodysplasia, dog

description: Osteochondrodysplasia that occurs in dog.


name: partial duplication of the short arm of chromosome 17


12q14 microdeletion syndrome

description: 12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.


name: agammaglobulinemia 10, autosomal dominant

description: An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported.


Joubert syndrome 18

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.


microsporidiosis

description: A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting.


larynx cancer

description: A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas.


name: mitochondrial complex 1 deficiency, nuclear type 22


name: developmental and epileptic encephalopathy, 7

description: KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.


name: lateral semicircular canal malformation, familial, with external and middle ear abnormalities


collagen 6-related myopathy

description: A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.


thyroiditis, non-human animal

description: Thyroiditis that occurs in non-human animals.


name: uterine corpus mixed epithelial and mesenchymal neoplasm

description: A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.


acute rheumatic heart disease

description: Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).


name: nemaline myopathy 5B, autosomal recessive, childhood-onset


cleft palate, horse

description: Cleft palate that occurs in horse.


pyruvate kinase deficiency of red cells

description: Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.


adult intestinal botulism

description: A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.


name: amyotrophic lateral sclerosis 27, juvenile


name: gastrointestinal defects and immunodeficiency syndrome 2

description: A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.


tremor, hereditary essential, 5

description: Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.


Curry-Jones syndrome

description: Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.


uremic neuropathy

description: Neuropathy resulting from uremia.


pancreatic cancer, susceptibility to, 1

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.


Balo concentric sclerosis

description: Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.


description: X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.


Seckel syndrome 9

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


name: ocular albinism with late-onset sensorineural deafness

description: Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.


name: hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

description: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.


osteoporosis, horse

description: Osteoporosis that occurs in horse.


name: sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis


EZB-MYC+ diffuse large B-cell lymphoma

description: An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.


description: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.


Neu-Laxova syndrome 1

description: Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.


undifferentiated round cell sarcoma

description: An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.


name: linear skin defects with multiple congenital anomalies 1

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


name: low density lipoprotein cholesterol, mild elevation of


polyvalvular heart disease syndrome

description: Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.


name: congenital stationary night blindness 2A

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.


name: polyneuropathy in collagen vascular disease


name: oocyte/zygote/embryo maturation arrest 20


age related macular degeneration 7

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.


name: conductive deafness-malformed external ear syndrome


cutaneous candidiasis

description: Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)


hypomyelinating leukodystrophy 2

description: Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.


trisomy

description: A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.


smooth muscle cancer

description: A malignant neoplasm arising from smooth muscle.


name: Pierre Robin syndrome-faciodigital anomaly syndrome

description: This syndrome is characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.


name: conotruncal heart malformations, non-human animal

description: Conotruncal heart malformations that occurs in non-human animals.


name: hereditary thrombocytosis with transverse limb defect

description: Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.


name: chorea, remitting, with nystagmus and cataract


Prata-Liberal-Goncalves syndrome

description: Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.


retinitis pigmentosa 14

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.


osteonecrosis of the jaw

description: An area of necrotic bone in the mandible or maxilla.


hereditary thermosensitive neuropathy

description: Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.


description: Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.


benign neoplasm of cornea

description: A benign neoplasm that involves the cornea.


immunodeficiency 33

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


name: systemic lupus erythematosus, non-human animal

description: Systemic lupus erythematosus that occurs in non-human animals.


name: vitreoretinopathy with phalangeal epiphyseal dysplasia


feline melanoma

description: A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes that occurs in a cat.


name: primary non-gestational choriocarcinoma of ovary

description: Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.


description: Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.


name: hereditary hypophosphatemic rickets with hypercalciuria

description: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.


holoprosencephaly 8

description: A holoprosencephaly that has material basis in variation in the chromosome region 14q13.


hyperlipoproteinemia type 3

description: Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.


description: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.


Carey-Fineman-Ziter syndrome 1

description: A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.


name: theca steroid-producing cell malignant tumor of ovary, not further specified

description: Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.


primary ciliary dyskinesia 28

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.


epilepsy, familial adult myoclonic, 2

description: Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.


congenital hematological disorder

description: A disorder of the blood that is present at birth.


prolactin producing pituitary tumor

description: An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.


name: transient bullous dermolysis of the newborn

description: Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.


congenital hydrocephalus

description: Hydrocephalus that is present at birth.


corneal dystrophy, Fuchs endothelial, 8

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.


chronic canaliculitis

description: Chronic form of actinomycosis.


type 2 collagenopathy

description: Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.


bullous systemic lupus erythematosus

description: A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.


diabetic encephalopathy

description: A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.


name: isolated ankyloblepharon filiforme adnatum

description: Isolated ankyloblepharon filiforme adnatum (AFA) is characterized by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.


name: DeSanto-Shinawi syndrome due to WAC point mutation


isolated microphthalmia 4

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.


name: multiple mitochondrial dysfunctions syndrome 6


Oguchi disease

description: Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.


cone-rod dystrophy 20

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.


spermatogenic failure 10

description: Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.


name: B4GALT1-congenital disorder of glycosylation

description: B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.


thanatophoric dysplasia type 2

description: Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.


name: thalamic degeneration, symmetric infantile


name: craniostenosis with congenital heart disease intellectual disability


mucolipidosis type IV

description: A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.


name: mitochondrial complex 1 deficiency, nuclear type 3


name: respiratory underresponsiveness to hypoxia and hypercapnia


ectodermal dysplasia 7, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.


Lemierre syndrome

description: Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.


cervical disk degenerative disorder

description: Any degenerative disorder affecting one or more vertebral disks of the cervical spine.


name: ichthyosis, split hairs, and amino aciduria


sarcoglycanopathy

description: Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.


name: hyperparathyroidism, neonatal self-limited primary, with hypercalciuria


2-hydroxyglutaric aciduria

description: 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.


sella turcica neoplasm

description: A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.


testicular dysgenesis syndrome

description: A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.


name: neonatal encephalopathy with non-epileptic myoclonus

description: A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.


name: non-saccular limited dorsal myeloschisis

description: A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity.


name: autosomal recessive nonsyndromic congenital nuclear cataract


name: mitochondrial dna depletion syndrome 16B (neuroophthalmic type)


partial septate uterus

description: Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.


premenstrual tension

description: A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.


Duane-radial ray syndrome

description: A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.


bullous pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.


Waardenburg syndrome type 2C

description: A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.


posteroinferior myocardial infarction

description: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.


name: digital anomalies-intellectual disability-short stature syndrome


name: atypical childhood epilepsy with centrotemporal spikes

description: A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.


Ciliophora infectious disease

description: Infections with protozoa of the phylum ciliophora.


name: endocardial fibroelastosis, domestic cat

description: Endocardial fibroelastosis that occurs in domestic cat.


name: short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

description: A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.


ring dermoid of cornea

description: Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.


name: congenital heart defects, multiple types, 5


name: mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

description: An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.


episodic ataxia type 6

description: Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.


name: VACTERL association, X-linked, with or without hydrocephalus


legionellosis

description: Any disease caused by Legionella bacteria.


name: mitochondrial complex 1 deficiency, nuclear type 5


name: deafness, unilateral, with delayed endolymphatic hydrops


cleidorhizomelic syndrome

description: Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.


name: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.


congenital hypothyroidism, horse

description: Congenital hypothyroidism that occurs in horse.


name: qualitative or quantitative defects of beta-sarcoglycan


juvenile chronic polyarthritis

description: A group of conditions used to describe polyarthritis occurring in children.


name: overgrowth syndrome with 2q37 translocation

description: A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.


primary ciliary dyskinesia 14

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.


seminal vesicle chronic gonorrhea

description: Chronic form of gonococcal seminal vesiculitis.


name: combined immunodeficiency due to STIM1 deficiency

description: Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.


name: diabetes mellitus, long-tailed chinchilla

description: Diabetes mellitus that occurs in long-tailed chinchilla.


non-autoimmune hemolytic anemia

description: Hemolytic anemia that is not mediated by immune mechanisms.


name: Tay-Sachs disease, B variant, adult form


Emanuel syndrome

description: Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.


Chagas disease

description: A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.


description: 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.


tuberous sclerosis

description: Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.


syndromic intellectual disability

description: A intellectual disability that is part of a larger syndrome.


age related macular degeneration 9

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.


name: hyperuricemic nephropathy, familial juvenile type 3


haemophilus infectious disease

description: Infections with bacteria of the genus haemophilus.


third cranial nerve disorder

description: A disease involving the oculomotor nerve.


name: melanoma and neural system tumor syndrome

description: Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).


pulpitis

description: Inflammation of the dental pulp.


melorheostosis

description: Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 5


T-cell leukemia

description: A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.


clear cell sarcoma of kidney

description: A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.


name: facial dysmorphism, cleft palate, hearing loss, and camptodactyly


name: neurofibromatosis type 1 due to NF1 mutation or intragenic deletion


Flinders island spotted fever

description: A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.


cardiomyopathy, domestic cat

description: Cardiomyopathy that occurs in domestic cat.


name: epilepsy, photogenic, with spastic diplegia and intellectual disability


toxocariasis

description: A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.


name: peroxisome biogenesis disorder 3A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3A manifests phenotypically as Zellweger syndrome.


name: lissencephaly type 1 due to doublecortin gene mutation

description: Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.


choanal atresia, llama

description: Choanal atresia that occurs in llama.


adult extraskeletal osteosarcoma

description: An osteosarcoma arising from the soft tissue, and occurring in adults.


spinocerebellar ataxia type 14

description: Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.


name: deafness-intellectual disability, Martin-Probst type syndrome

description: A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome.


name: lissencephaly type 3-familial fetal akinesia sequence syndrome

description: Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.


name: holoprosencephaly, recurrent infections, and monocytosis


mild hemophilia B

description: Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


osteogenesis imperfecta type 10

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.


name: microcephaly with lissencephaly and/or hydranencephaly

description: A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present.


hereditary mucosal leukokeratosis

description: White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or grayish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.


epiglottitis

description: Inflammation of the epiglottis.


cataract 11 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.


brachydactyly, rabbit

description: Brachydactyly that occurs in rabbit.


name: striatonigral degeneration, infantile, mitochondrial


new-onset refractory status epilepticus

description: New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.


Alzheimer disease 4

description: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.


description: Paraneoplastic syndrome that involves the digestive system.


African swine fever

description: A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros).


pseudoxanthoma elasticum, forme fruste

description: An autosomal dominant form of PXE.


name: cleft palate-stapes fixation-oligodontia syndrome

description: Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.


name: autosomal dominant nonsyndromic hearing loss 69

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


name: hydrops fetalis, nonimmune, with gracile bones and dysmorphic features


name: neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia


intermediate nemaline myopathy

description: Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.


Ochoa syndrome

description: Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.


Alzheimer disease 13

description: An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.


description: A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis.


labia minora cancer

description: A malignant neoplasm that affects the labia minora.


Pauci-immune glomerulonephritis

description: Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA.


lymphangitis

description: Inflammation of the lymphatic vessels.


oculopharyngeal muscular dystrophy

description: Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.


name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation


aJCC grade 1 sarcoma

description: Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)


hypospadias, non-human animal

description: Hypospadias that occurs in non-human animals.


poliomyelitis

description: An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine.


name: syndromic complex neurodevelopmental disorder

description: A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.


name: developmental and epileptic encephalopathy

description: A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.