dyskeratosis congenita

description: Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.


name: congenital partial agenesis of pericardium

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

description: Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.


name: cerebral amyloid angiopathy, domestic cat

description: Cerebral amyloid angiopathy that occurs in domestic cat.


inherited mitral valve disease

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


name: autosomal recessive nonsyndromic hearing loss 55

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.


necrobiotic xanthogranuloma

description: A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement.


familial schizencephaly

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


name: autosomal recessive congenital ichthyosis 2

description: An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.


faciocardiorenal syndrome

description: Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.


tuberculoid leprosy

description: A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.


pineal body neoplasm

description: A neoplasm (disease) that involves the pineal body.


narcissistic personality disorder

description: A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.


familial hemiplegic migraine

description: A migraine disorder characterized by individual and family history of aura that includes motor weakness.


name: intellectual disability, autosomal dominant 58


AA amyloidosis, sheep

description: AA amyloidosis that occurs in sheep.


ring chromosome 5

description: Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).


name: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the BICD2 gene, encoding protein bicaudal D homolog 2.


name: intellectual disability, autosomal recessive 33


22q11.2 deletion syndrome

description: 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.


name: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

description: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.


endosalpingiosis

description: A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain.


humoral hypercalcemia of malignancy

description: Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.


pseudohypoparathyroidism type 1C

description: A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).


name: oculoauriculovertebral spectrum with radial defects

description: Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.


name: focal or multifocal malformations in neuronal migration


trisomy 4p

description: Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.


pentalogy of Cantrell

description: Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.


name: optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome


Brugada syndrome 8

description: Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.


uncombable hair syndrome 2

description: Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.


leptomyelolipoma

description: Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.


Tay-Sachs disease

description: GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.


canine pancreatic carcinoma

description: Pancreatic carcinoma that occurs in a dog.


blepharocheilodontic syndrome 2

description: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.


primary ciliary dyskinesia 34

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.


cone-rod dystrophy 9

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.


keratitis, non-human animal

description: Keratitis that occurs in non-human animals.


peroxisome biogenesis disorder

description: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).


pontocerebellar hypoplasia

description: Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.


myopia 21, autosomal dominant

description: Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.


favism

description: A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.


acquired von willebrand syndrome

description: Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.


name: combined oxidative phosphorylation deficiency 48


hemophilia B, non-human animal

description: Hemophilia B that occurs in non-human animals.


vestibular gland benign neoplasm

description: A benign neoplasm that involves the vestibular gland.


name: chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase


name: tall stature-scoliosis-macrodactyly of the great toes syndrome

description: Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.


benign neoplasm of salivary gland

description: A benign neoplasm that involves the saliva-secreting gland.


Jacobsen syndrome, non-human animal

description: Jacobsen syndrome that occurs in non-human animals.


central cloudy dystrophy of François

description: Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.


polycystic kidney disease, horse

description: Polycystic kidney disease that occurs in horse.


name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

description: A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.


name: xeroderma pigmentosum-Cockayne syndrome complex

description: Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).


epidermolysis bullosa dystrophica

description: A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.


tuberculous ascites

description: A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.


idiopathic posterior uveitis

description: Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.


name: Ehlers-Danlos syndrome, kyphoscoliotic type, 2

description: A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.


benign neoplasm of trachea

description: A benign neoplasm that involves the trachea.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B


lice infestation

description: A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.


name: syndromic X-linked intellectual disability 94

description: A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.


rumination disorder

description: Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.


name: infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome


osteoblastic osteosarcoma

description: A conventional osteosarcoma characterized by the predominance of osteoid matrix.


chronic meningitis

description: Chronic form of meningitis (disease).


intellectual disability, X-linked 1

description: An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.


hypophosphatasia

description: Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).


germ cell tumor

description: A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.


name: paternal uniparental disomy of chromosome 14


acrofacial dysostosis Rodriguez type

description: Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.


name: hypertrichosis-acromegaloid facial appearance syndrome

description: Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.


name: ciliary dyskinesia, primary, 36, X-linked

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.


Moyamoya disease

description: Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.


description: A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).


name: hereditary motor and sensory neuropathy type 6


name: isolated focal cortical dysplasia type IIb


muscular dystrophy, turkey

description: Muscular dystrophy that occurs in turkey.


name: autosomal dominant nocturnal frontal lobe epilepsy 4

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.


Joubert syndrome 1

description: Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.


Meckel syndrome, type 3

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


childhood testicular germ cell tumor

description: A germ cell tumor that arises from the testis during childhood.


name: SCN4A-related myopathy, autosomal recessive

description: Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.


renal tuberculosis

description: Infection of the kidney due to mycobacteria.


name: deafness with anhidrotic ectodermal dysplasia


glomerulonephritis, dog

description: Glomerulonephritis that occurs in dog.


name: lethal congenital contracture syndrome 8

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.


name: neurodevelopmental disorder with dystonia and seizures


holoprosencephaly 6

description: A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.


description: A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.


name: X-linked complex neurodevelopmental disorder

description: A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.


olecranon bursitis

description: A bursitis that involves the olecranon.


name: monosomy 7 myelodysplasia and leukemia syndrome 2


name: immunodeficiency-centromeric instability-facial anomalies syndrome

description: The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.


pyloric stenosis, domestic cat

description: Pyloric stenosis that occurs in domestic cat.


name: circadian rhythm sleep disorder, shift work type

description: A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.


name: epidermolysis bullosa, junctional 6, with pyloric atresia


name: autoinflammatory disease, multisystem, with immune dysregulation, X-linked


name: Huntington disease and related disorders

description: A grouping for Huntington disease and similar diseases.


obstetric disorder

description: Disorder associated with pregnancy, childbirth, and puerperium.


name: leukocyte nuclear appendages, hereditary prevalence of


hypospadias, cattle

description: Hypospadias that occurs in cattle.


name: dopa-responsive dystonia due to sepiapterin reductase deficiency

description: Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.


Van den Ende-Gupta syndrome, dog

description: Van den Ende-Gupta syndrome that occurs in dog.


name: mitochondrial myopathy with a defect in mitochondrial-protein transport


name: intellectual disability-sparse hair-brachydactyly syndrome

description: Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.


polycystic kidney disease, lion

description: Polycystic kidney disease that occurs in lion.


name: childhood sarcoma with BCOR genetic alterations

description: A sarcoma with BCOR genetic alterations that occurs during childhood.


periprosthetic joint infection

description: A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties.


cerebellar degeneration, domestic cat

description: Cerebellar degeneration that occurs in domestic cat.


platelet-type bleeding disorder 16

description: An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.


name: mitochondrial complex II deficiency, nuclear type


myomatous neoplasm

description: A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.


epispadias

description: Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.


connective tissue disorder

description: A disease involving the connective tissue.


peeling skin syndrome

description: Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.


mesomelic dysplasia, Savarirayan type

description: Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.


name: hypogonadotropic hypogonadism 21 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.


name: myelodysplastic syndrome with excess blasts-1

description: A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)


Picornaviridae infectious disease

description: Virus diseases caused by the picornaviridae.


name: cold-induced sweating syndrome - hyperthermia spectrum


Fanconi anemia complementation group U

description: Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.


ciliary body mixed cell melanoma

description: A mixed cell uveal melanoma that involves the ciliary body.


fetal akinesia deformation sequence 3

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.


dissecting cellulitis of the scalp

description: Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.


name: lissencephaly and cerebellar hypoplasia, non-human animal

description: Lissencephaly and cerebellar hypoplasia that occurs in non-human animals.


erythrocytosis, familial, 3

description: Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.


lupus erythematosus

description: An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.


disorder of peroxisomal alpha oxidation

description: Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.


phencyclidine abuse

description: The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.


retinitis pigmentosa 9

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.


description: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.


dysautonomia, horse

description: Dysautonomia that occurs in horse.


segmental dystonia

description: A dystonia that affects two or more adjacent parts of the body.


schizoaffective disorder

description: A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.


pythiosis

description: A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.


name: hypophosphatemic rickets, autosomal recessive, 2

description: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.


anotia facial palsy cardiac defect

description: A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot.


description: This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.


Leber plus disease

description: Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.


meningococcal meningitis

description: An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.


patent urachus, domestic cat

description: Patent urachus that occurs in domestic cat.


Krabbe disease, dog

description: Krabbe disease that occurs in dog.


SHORT syndrome

description: SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.


cataract 27

description: A cataract that has material basis in mutation in the region 2p12.


neoplasm of minor salivary gland

description: A neoplasm (disease) that involves the minor salivary gland.


name: short stature-webbed neck-heart disease syndrome

description: Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.


pituitary apoplexy

description: A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction.


name: sporadic infantile bilateral striatal necrosis

description: Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.


tooth agenesis, selective, X-linked, 1

description: Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.


blepharoconjunctivitis

description: Inflammation of both the eyelids and the conjunctiva.


name: herpes simplex type 1 infectious disease

description: A disease caused by infection with herpes simplex type 1.


toxicodendron dermatitis

description: An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)


vagus nerve neoplasm

description: A neoplasm involving a vagus nerve.


autosomal recessive osteopetrosis 1

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.


hypomyelinating leukodystrophy 4

description: Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.


name: intellectual disability, autosomal dominant 51


balanitis xerotica obliterans

description: A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.


hypervitaminosis A

description: A symptom complex resulting from ingesting excessive amounts of vitamin A.


name: X-linked intellectual disability-hypotonia-movement disorder syndrome


name: avascular necrosis of femoral head, primary, 2


pediatric lymphoma

description: A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.


name: deafness, neural, with atypical atopic dermatitis


name: alopecia-intellectual disability syndrome 3


name: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies


name: partial deletion of the short arm of chromosome 1

description: Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


benign smooth muscle neoplasm

description: A benign mesenchymal neoplasm arising from smooth muscle tissue.


name: lethal congenital contracture syndrome 1

description: Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.


name: microcephaly, macrotia, and intellectual disability


Pseudomonas aeruginosa CF5 infection

description: A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.


congenital myopathy, dog

description: Congenital myopathy that occurs in dog.


laminopathy type Decaudain-Vigouroux

description: Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.


description: Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.


name: polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

description: Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.


description: Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.


neuropathy, hereditary sensory, type 1D

description: A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.


focal epilepsy

description: A seizure caused by a localized disorder.


description: Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.


name: acute myeloid leukemia, KIT exon 8 mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)


familial temporal lobe epilepsy 7

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.


description: An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.


neuroretinitis

description: Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.


name: aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

description: Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.


isolated congenital anosmia

description: This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.


name: spastic paraplegia 81, autosomal recessive


name: ichthyosiform erythroderma, corneal involvement, and hearing loss


name: proteasome-associated autoinflammatory syndrome 2


name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form


acute necrotizing encephalitis

description: A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)


seizures, benign familial infantile, 3

description: Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.


name: SIN3A-related intellectual disability syndrome


name: unbalanced Robertsonian translocation Down syndrome

description: Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred with loss of chromosomal material between the two nonhomologous chromosomes.


spermatogenic failure 15

description: Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.


benign sertoli cell tumor

description: A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.


name: arthrogryposis multiplex congenita 1, neurogenic, with myelin defect


vulva fibroepithelial polyp

description: A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.


candidiasis, familial, 8

description: Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.


microphthalmia, Lenz type

description: A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.


herpes simplex virus keratitis

description: A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)


name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

description: A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.


astereognosia

description: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.


name: microcephaly sparse hair intellectual disability seizures


atrophic rhinitis

description: A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).


microphthalmia, golden hamster

description: Microphthalmia that occurs in golden hamster.


tooth erosion, non-bacterial

description: Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)


name: microcephaly 16, primary, autosomal recessive


myofibrillar myopathy 7

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


disorder of pharynx

description: A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.


LADD syndrome

description: A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.


Dias-Logan syndrome

description: Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.


name: synovial chondromatosis, great horned owl

description: Synovial chondromatosis that occurs in great horned owl.


megacystis-megaureter syndrome

description: Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.


skeletal muscle cancer

description: A malignant neoplasm arising from skeletal muscle.


renal-hepatic-pancreatic dysplasia

description: A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.


trisomy 20p

description: Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.


osteochondritis dissecans, snow leopard

description: Osteochondritis dissecans that occurs in snow leopard.


hemophagocytic syndrome

description: Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).


name: Carney complex - trismus - pseudocamptodactyly syndrome

description: Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).


name: polydactyly of a biphalangeal thumb, unilateral


colchicine poisoning

description: A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.


name: infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome


retinitis pigmentosa 49

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.


Waardenburg syndrome type 2E

description: Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.


autoimmune epilepsy

description: An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.


trachoma

description: A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis.


name: developmental and epileptic encephalopathy, 25

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.


Siberian tick typhus

description: A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.


Niemann-Pick disease type C

description: NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.


cerebral gigantism-jaw cysts syndrome

description: Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.


feline mammary carcinoma

description: Mammary carcinoma occurring in a cat.


name: retinitis pigmentosa and erythrocytic microcytosis


spinocerebellar ataxia type 18

description: Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.


name: developmental and epileptic encephalopathy, 33

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.


CACNA1F-related retinopathy

description: Any retinopathy caused by a variant in the CACNA1F gene.


name: spinocerebellar degeneration with slow eye movements


name: alopecia congenita keratosis palmoplantaris


name: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete


frontonasal dysplasia

description: A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.


name: supravalvular aortic stenosis, non-human animal

description: Supravalvular aortic stenosis that occurs in non-human animals.


coenzyme Q10 deficiency, primary, 1

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.


name: kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome


autosomal recessive osteopetrosis

description: An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.


perinatal disease

description: A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth.


adrenal rest tumor

description: A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.


vestibular neuronitis

description: Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)


name: congenital absence of both lower leg and foot, unilateral


acute stress disorder

description: An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.


Perrault syndrome 5

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


Caffey disease

description: Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.


cutaneous diphtheria

description: A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.


ABeta amyloidosis, Iowa type

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.


name: epileptic encephalopathy, infantile or early childhood


cherubism

description: Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.


uterine corpus myxoid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.


Tel Hashomer camptodactyly syndrome

description: Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.


dysraphic spinal cord lipoma

description: A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect.


name: Charcot-Marie-Tooth disease, axonal, type 2FF


auriculocondylar syndrome

description: Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.


ST2 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.


uterine corpus neuroendocrine neoplasm

description: An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.


name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia


name: Turner syndrome due to structural X chromosome anomalies


name: genital herpes simplex type 1 infectious disorder

description: Any herpes simplex type 1 infectious disease that involves the genitals.


cataract 15 multiple types

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


name: congenital muscular dystrophy due to integrin alpha-7 deficiency

description: Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.


ichthyosis vulgaris

description: The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2


Martinez Monasterio Pinheiro syndrome

description: A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: peroxisome biogenesis disorder due to PEX19 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.


name: microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies


name: GNAO1-related developmental delay-seizures-movement disorder spectrum


name: neuronopathy, distal hereditary motor, type 9


name: pure or complex hereditary spastic paraplegia


odontogenic cyst

description: A cyst in the jaw that arises from tissues of tooth development.


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

description: Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.


name: arterial calcification, generalized, of infancy, 1

description: An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.


name: cerebroretinal microangiopathy with calcifications and cysts 3


urinary system disorder

description: A disease involving the renal system.


aniridia-absent patella syndrome

description: Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.


nemaline myopathy 9

description: Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.


glandular tularemia

description: A tularemia that involves the lymph node.


retinitis pigmentosa 7

description: A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.


intestinal polyposis syndrome

description: A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes.


name: autosomal recessive nonsyndromic hearing loss 77

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.


eye degenerative disorder

description: A neurodegenerative disease that involves the eye.


name: benign female reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.


name: X-linked intellectual disability, Porteous type


Camurati-Engelmann disease, type 2

description: Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.


prostate rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.


clitoris cancer

description: A malignant neoplasm that affects the clitoris.


benign tumor of palpebral epidermis

description: A benign neoplasm that involves the skin of eyelid.


name: cystic fibrosis-gastritis-megaloblastic anemia syndrome

description: A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.


lymphatic malformation 3

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


neurally mediated hypotension

description: Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal


cataract 7

description: A cataract that has material basis in variation in the region 17q24.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.


name: epidermolysis bullosa simplex 7, with nephropathy and deafness


gangliosidosis, pig

description: Gangliosidosis that occurs in pig.


name: autosomal recessive nonsyndromic hearing loss 74

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.


cataract 23

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.


aortic aneurysm, familial thoracic 8

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.


name: neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies


name: ankylosing spondylitis, non-human animal

description: Ankylosing spondylitis that occurs in non-human animals.


clitoris neoplasm

description: A neoplasm involving a clitoris.


deafness-vitiligo-achalasia syndrome

description: Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.


primary progressive multiple sclerosis

description: A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.


dilated cardiomyopathy, dog

description: Dilated cardiomyopathy that occurs in dog.


Wiskott-Aldrich syndrome

description: Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.


name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome


spinocerebellar ataxia type 26

description: Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.


nephritis, dog

description: Nephritis that occurs in dog.


photokeratitis

description: Injury to the cornea secondary to ultraviolet light.


name: neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy


name: autosomal recessive spastic paraplegia type 78

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.


night blindness, cattle

description: Night blindness that occurs in cattle.


name: severe dermatitis-multiple allergies-metabolic wasting syndrome


name: adult-onset progressive leukoencephalopathy-early-onset deafness

description: A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.


hamartoma of skin appendage

description: A hamartoma (disease) that involves the cutaneous appendage.


multiple endocrine neoplasia

description: Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.


inherited rippling muscle disease

description: A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.


name: craniofacial anomalies and anterior segment dysgenesis syndrome


name: autoinflammatory syndrome, familial, Behcet-like


name: cerebral amyloid angiopathy, non-human animal

description: Cerebral amyloid angiopathy that occurs in non-human animals.


2p21 microdeletion syndrome

description: The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.


name: musculoskeletal system disorder, non-human animal

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


name: hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration


chronic monocytic leukemia, dog

description: Chronic monocytic leukemia that occurs in dog.


galactosialidosis, non-human animal

description: Galactosialidosis that occurs in non-human animals.


primary erythermalgia

description: Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.


Schmid metaphyseal chondrodysplasia

description: Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.


delayed membranous cranial ossification

description: Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.


epilepsy, familial adult myoclonic, 5

description: Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.


epilepsy, domestic cat

description: Epilepsy that occurs in domestic cat.


name: autosomal dominant nonsyndromic hearing loss 27

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.


name: peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

description: Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.


name: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

description: A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.


name: optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant


name: uterine corpus epithelioid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.


name: neuropathy, hereditary sensory, atypical

description: A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.


cataract 8 multiple types

description: A cataract that has material basis in variation in the region 1pter-p36.13.


name: hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

description: A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.


name: myopathy, congenital, with fiber-type disproportion, X-linked


name: progeria-short stature-pigmented nevi syndrome

description: Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.


name: spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

description: Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.


description: Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.


description: 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.


name: atrioventricular defect-blepharophimosis-radial and anal defect syndrome

description: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.


name: short stature and Facioauriculothoracic malformations


name: qualitative or quantitative defects of tropomyosin


Bardet-Biedl syndrome 8

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.


hemophilia B, pig

description: Hemophilia B that occurs in pig.


name: neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements


familial multiple meningioma

description: Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.


properdin deficiency, X-linked

description: A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.


Blake pouch cyst

description: Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.


SPAST-related motor disorder

description: Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,


name: GYG1-related disorder of glycogen metabolism

description: Any disorder of glycogen metabolism in which the cause of disease is a mutation in the GYG1 gene.


name: autosomal dominant nonsyndromic hearing loss 12

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


reactive cutaneous fibrous lesion

description: A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.


name: autosomal recessive nonsyndromic hearing loss 8

description: An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.


name: symbrachydactyly of hand and foot, bilateral


isolated congenital digital clubbing

description: Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.


name: parotid salivary glands, polycystic dysgenetic disease of


atypical endometrial hyperplasia

description: An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.


name: frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome


uncombable hair syndrome

description: Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.


name: Ehlers-Danlos syndrome, spondylodysplastic type, 1


name: nystagmus 7, congenital, autosomal dominant


SERAC1-related neurological disorder

description: Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene.


name: agammaglobulinemia 8b, autosomal recessive


bronchopulmonary dysplasia

description: Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.


Stüve-Wiedemann syndrome 1

description: A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.


name: classic pantothenate kinase-associated neurodegeneration


thrombocytopenia 2

description: An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.


Bencze syndrome

description: Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.


conventional osteosarcoma

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


Bardet-Biedl syndrome 14

description: A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.


Plasmodium malariae malaria

description: Malaria resulting from infection by Plasmodium malariae.


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

description: Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).


name: immunodeficiency 14b, autosomal recessive


tibial neuropathy

description: Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)


potassium-aggravated myotonia

description: Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.


osteoarthritis, koala

description: Osteoarthritis that occurs in koala.


pudendal neuralgia

description: Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.


corpus uteri neoplasm

description: A neoplasm (disease) that involves the body of uterus.


spinocerebellar ataxia type 41

description: Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.


sparganosis

description: A condition resulting from infection with the second stage larvae of the parasite Spirometra.


description: A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.


name: spondylometaphyseal dysplasia, 'corner fracture' type

description: A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).


name: intellectual disability, Buenos-Aires type

description: Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.


name: mitochondrial complex IV deficiency, nuclear type 1


nystagmus 1, congenital, X-linked

description: Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.


name: tick-borne infectious disease, non-human animal

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


lysinuric protein intolerance

description: Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism.


Bifidobacteriales infectious disease

description: Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.


name: deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

description: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).


name: combined immunodeficiency due to LRBA deficiency


tooth agenesis, selective, 8

description: Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.


GRM6-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GRM6 gene.


name: myopathy-growth delay-intellectual disability-hypospadias syndrome


name: Phelan-McDermid syndrome, crab-eating macaque

description: Phelan-McDermid syndrome that occurs in crab-eating macaque.


mosaic variegated aneuploidy syndrome

description: Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.


name: Bordetella parapertussis infectious disease

description: Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.


name: muscular dystrophy, Duchenne type, non-human animal

description: Muscular dystrophy, Duchenne type that occurs in non-human animals.


nephrogenic adenofibroma

description: A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.


cataract 6 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.


border disease

description: Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus.


Meckel syndrome, type 9

description: Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.


atypical carcinoid tumor

description: A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.


name: congenital adrenal hyperplasia, non-human animal

description: Congenital adrenal hyperplasia that occurs in non-human animals.


ligament disorder

description: A disease or disorder that involves the ligament.


juvenile amyotrophic lateral sclerosis

description: Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.


name: microcephaly-complex motor and sensory axonal neuropathy syndrome

description: Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.


myofibroblastoma

description: A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.


papular mucinosis of infancy

description: Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.


congenital hydronephrosis

description: Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.


name: autosomal dominant nonsyndromic hearing loss 1

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.


name: central polydactyly of fingers, unilateral


COL4A1-related disorder

description: The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).


chromosome 9 disorder

description: Chromosomal disorder in which chromosome 9 is affected.


primary progressive aphasia

description: Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).


diabetic embryopathy

description: Diabetic embryopathy is characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother.


hypomandibular faciocranial dysostosis

description: Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.


Acanthamoeba infectious disease

description: An infectious disease involving the Acanthamoeba.


fibromyxoid tumor

description: A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.


name: megalencephalic leukoencephalopathy with subcortical cysts 2A


peripheral precocious puberty

description: Precocious puberty caused by sex hormones.


name: neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies


Hughes-Stovin syndrome

description: Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.


name: autosomal recessive nonsyndromic hearing loss 25

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.


name: oculodentodigital dysplasia, autosomal recessive

description: Autosomal recessive form of oculodentodigital dysplasia.


name: congenital fibrosis of extraocular muscles type 1

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.


small size posterior uveal melanoma

description: Ciliary body and choroid melanoma measuring less than 10 mm in greatest diameter.


Creutzfeldt Jacob disease

description: A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.


name: fibrosis of extraocular muscles, congenital, 5

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.


microcephaly and chorioretinopathy 2

description: Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.


name: aniridia - intellectual disability syndrome

description: Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.


immune hydrops fetalis

description: Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.


name: adult-onset proximal spinal muscular atrophy, autosomal dominant


Brugada syndrome 7

description: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.


name: autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome


tuberculosis, non-human animal

description: Tuberculosis that occurs in non-human animals.


uveal cancer

description: A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.


anovulation

description: The absence of ovulation.