familial multiple fibrofolliculoma

description: Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.


purpura simplex

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


name: hypomagnesemia, seizures, and intellectual disability


acute thyroiditis

description: Acute form of thyroiditis (disease).


cheirospondyloenchondromatosis

description: Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.


epithelioid cell melanoma

description: A melanoma characterized by the presence of malignant large epithelioid melanocytes.


description: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.


visual snow syndrome

description: Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow.


name: oocyte/zygote/embryo maturation arrest 19


name: congenital primary megaureter, nonrefluxing and unobstructed form


chronic salpingo-oophoritis

description: Chronic form of salpingo-oophoritis.


description: Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.


name: benign neoplasm of peripheral nervous system


deep leiomyoma

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


mononeuritis of lower limb

description: A mononeuritis simplex that involves the hindlimb.


name: rhizomelic dysplasia, Patterson-Lowry type

description: Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.


description: Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.


congenital herpes virus infection

description: An infectious embryofetopathy caused by infection with Herpesviridae.


Brooke-Spiegler syndrome

description: Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.


low grade central osteosarcoma

description: A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.


name: intellectual developmental disorder with paroxysmal dyskinesia or seizures


name: radiation sensitivity of natural killer activity


name: diffuse palmoplantar keratoderma - acrocyanosis syndrome

description: Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.


lymph node disorder

description: Any disorder of the lymph nodes.


disorder of uterine broad ligament

description: A disease or disorder that involves the broad ligament of uterus.


short stature, Brussels type

description: This syndrome is characterized by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.


laryngeal disorder

description: A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.


benign neoplasm of ciliary body

description: A benign neoplasm that involves the ciliary body.


name: silver-Russell syndrome due to 7p11.2p13 microduplication


name: retinitis pigmentosa 94, variable age at onset


criss-cross heart

description: Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.


name: rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction


chronic myelomonocytic leukemia, dog

description: Chronic myelomonocytic leukemia that occurs in dog.


HSD10 disease, neonatal type

description: HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.


familial acanthosis nigricans

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


name: ventricular tachycardia, catecholaminergic polymorphic 6


canine acanthomatous epulis

description: A tumor arising from odontogenic epithelium and occurs in a dog.


45,X/46,XY mixed gonadal dysgenesis

description: 45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.


name: intellectual developmental disorder, autosomal recessive 81


name: familial chronic myelocytic leukemia-like syndrome

description: A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).


name: deafness, congenital, and familial myoclonic epilepsy


name: Niemann-Pick disease type C, juvenile neurologic onset


intertrigo

description: A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation.


name: partial duplication of the short arm of chromosome 11


linear lichen planus

description: Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.


name: mesenteric lymphadenitis due to Yersinia infection

description: An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.


placenta praevia

description: Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor.


kaposiform lymphangiomatosis

description: A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.


name: disorder of iron metabolism and transport


name: X-linked intellectual disability with hypopituitarism

description: An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.


name: arthrogryposis, distal, with intellectual disability and characteristic facies


name: alopecia universalis onychodystrophy vitiligo

description: A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.


hereditary dementia

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


SELENON-related myopathy

description: Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.


paraurethral gland neoplasm

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


Niemann-Pick disease type E

description: Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.


name: ciliary dyskinesia, primary, 47, and lissencephaly


distal trisomy 22q

description: Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.


episodic ataxia type 4

description: Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.


retinitis pigmentosa 34

description: A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.


description: Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.


microphthalmia-brain atrophy syndrome

description: Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.


Behcet syndrome arthropathy

description: Arthropathy resulting from Behcet's syndrome.


epiglottis neoplasm

description: A benign or malignant neoplasm that affects the epiglottis.


exostoses, multiple, type 1

description: Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.


postoperative ventricular dysfunction

description: Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.


name: intellectual developmental disorder with ocular anomalies and distinctive facial features


Huntington disease-like 3

description: Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.


16p11.2p12.2 microduplication syndrome

description: 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.


name: cortical dysplasia, complex, with other brain malformations 9


name: refractory precursor T-lymphoblastic lymphoma/leukemia

description: T-lymphoblastic leukemia/lymphoma resistant to treatment


description: Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.


Aicardi-Goutieres syndrome 9

description: A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.


non-specific granulomatous orchitis

description: Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.


syndromic microphthalmia

description: A microphthalmia that is part of a larger syndrome.


balloon cell malignant melanoma

description: A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.


name: MAN1B1-congenital disorder of glycosylation

description: MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).


fetal erythroblastosis

description: A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.


campomelia, Cumming type

description: Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.


name: developmental and epileptic encephalopathy 97


name: primary immunodeficiency due to calcium channel deficiency

description: An immunodeficiency disease caused by a variation in the CRACR2A gene.


name: spinocerebellar ataxia, autosomal recessive 33


name: anhidrosis, familial generalized, with abnormal or absent sweat glands


immature teratoma

description: A teratoma composed of immature, fetal-type tissues.


Alsing syndrome

description: An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.


laminopathy

description: A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.


Carney-Stratakis syndrome

description: Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.


name: partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

description: A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.


occupational disorder

description: Any disorder that is realized in response to an exposure to occupation.


name: partial duplication of the long arm of chromosome 2

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


name: mitochondrial complex 1 deficiency, nuclear type 6


name: ALG9-associated autosomal dominant polycystic kidney disease

description: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.


ureteric orifice cancer

description: A malignant neoplasm involving the ureteral orifice.


Patterson-Stevenson-Fontaine syndrome

description: Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.


name: rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies


leukorrhea

description: Whitish or yellowish mucosal vaginal discharge.


description: Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.


name: congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome


name: absent radius-anogenital anomalies syndrome

description: Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.


atrioventricular node disorder

description: A disease involving the atrioventricular node.


name: pseudoleprechaunism syndrome, Patterson type

description: Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.


name: spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal


desmoplastic nevus

description: A benign melanocytic nevus characterized by the presence of desmoplastic stroma.


TRPM1-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the TRPM1 gene.


testicular fibrothecoma

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


name: muscular dystrophy-white matter spongiosis syndrome


name: hypothyroidism, congenital, nongoitrous, 9


light chain deposition disease

description: Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.


osteoarthritis, toe

description: Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.


name: Kleefstra syndrome due to 9q34 microdeletion


name: multiple exostoses with spastic tetraparesis


early-onset familial hypoaldosteronism

description: A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.


name: mucopolysaccharidosis type 2, severe form

description: Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.


name: spondyloepimetaphyseal dysplasia, Irapa type

description: A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.


acute myeloid leukemia, t(8;16)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)


ricin poisoning

description: A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.


name: intellectual developmental disorder, autosomal recessive 70


setariasis

description: Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.


partial sensory epilepsy

description: A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).


name: intellectual developmental disorder, autosomal dominant 64


conventional fibrosarcoma

description: A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.


autosomal recessive amelia

description: Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents.


name: malocclusion due to protuberant upper front teeth


name: neurodegeneration, childhood-onset, with progressive microcephaly


name: developmental and epileptic encephalopathy 89


name: aniridia-renal agenesis-psychomotor retardation syndrome

description: Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.


name: idiopathic macular telangiectasia type 3

description: A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.


name: infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development


name: juvenile amyotrophic lateral sclerosis with dementia

description: A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.


immunodeficiency-related disorder

description: A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.


name: non-specific autoimmune supratentorial encephalitis without characteristic antibodies


acute myeloid leukemia, Trisomy 8

description: Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)


torsion dystonia 13

description: DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.


parovarian cyst

description: A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni).


acute endometritis

description: An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.


name: paraneoplastic isolated brainstem encephalitis


name: acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive

description: Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)


disseminated peritoneal leiomyomatosis

description: A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.


neonatal brainstem dysfunction

description: Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.


NK cell deficiency

description: A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood.


name: acute myeloid leukemia, t(9;22)(q34.1;q11.2)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)


name: microcephaly with intellectual disability

description: Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.


name: prostate cancer aggressiveness quantitative trait locus on chromosome 19


symptomatic heart failure

description: A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc


pili torti-onychodysplasia syndrome

description: Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.


trisomy 18p

description: Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.


benign neoplasm of scrotum

description: A benign neoplasm that involves the scrotum.


name: nasal hyperpigmentation, familial transverse


name: Ehlers-Danlos syndrome, autosomal dominant, type unspecified


TUBB4A-related neurologic disorder

description: Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene.


name: inflammatory poikiloderma with hair abnormalities and acral keratoses


episodic ataxia type 7

description: Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.


name: iatrogenic or traumatic pituitary deficiency


name: osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension


description: Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces.


EZB-MYC- diffuse large B-cell lymphoma

description: An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.


Fanconi-like syndrome

description: A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.


nail infection

description: An infectious process affecting the nail.


trigonocephaly-broad thumbs syndrome

description: Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.


name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion


chronic inducible urticaria

description: A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.


Cowden syndrome 3

description: Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.


tyrosine hydroxylase deficiency

description: Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).


peritonsillar abscess

description: An abscess that develops in the space surrounding one or both palatine tonsils.


description: X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.


erythema multiforme major

description: A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.


spinocerebellar ataxia type 25

description: Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.


name: tetralogy of fallot syndrome, autosomal recessive


la Crosse encephalitis

description: La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.


Whitewater Arroyo hemorrhagic fever

description: A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.


distal monosomy 9p

description: Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.


inborn disorder of histidine metabolism

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


histiocytic and dendritic cell neoplasm

description: Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)


name: short-rib thoracic dysplasia 7/20 with polydactyly, digenic


name: global developmental delay with or without impaired intellectual development


actinic cheilitis

description: Cheilitis due to chronic exposure to ultraviolet (UV) radiation. It may increase the risk for the development of invasive squamous cell carcinoma of the lip.


AIDS phobia

description: An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.


name: congenital hereditary facial paralysis-variable hearing loss syndrome

description: Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.


Kyrle disease

description: Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.


name: acute myeloid leukemia, t(1;11)(q21;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)


thelaziasis

description: A disease caused by infection with Thelazia.


name: benign familial neonatal-infantile seizures 1


femoral cancer

description: A cancer involving a femur.


pelvis syndrome

description: PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.


chromosome 3q13.31 deletion syndrome

description: 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.


name: MELAS syndrome caused by mutation in MTTC

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.


benign mesenchymoma

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


iris neoplasm

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


name: pseudohypoaldosteronism, type IB3, autosomal recessive


cardiovascular syphilis

description: A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.


atypical choroid plexus papilloma

description: A choroid plexus papilloma characterized by increased mitotic activity.


name: alveolar capillary dysplasia without misalignment of pulmonary veins

description: A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.


name: mitochondrial complex I deficiency, nuclear type


oculoosteocutaneous syndrome

description: A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.


myotonic cataract

description: A cataract occurring as a sequela of myotonic dystrophy.


Alexander disease type I

description: Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.


childhood germ cell tumor

description: A germ cell tumor that occurs during childhood.


name: partial monosomy of the short arm of chromosome 20


cervical adenosarcoma

description: A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.


Yersinia infectious disease

description: Infections with bacteria of the genus yersinia.


coagulation protein disease

description: Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.


familial cervical artery dissection

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


acquired hypertrichosis lanuginosa

description: Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.


canine mammary carcinoma

description: Mammary carcinoma occurring in a dog.


name: intellectual developmental disorder with poor growth and with or without seizures or ataxia


name: osteosclerosis-ichthyosis-premature ovarian failure syndrome

description: This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.


cataract 28

description: A cataract that has material basis in variation in the region 6p12-q12.


name: GRID2-related autosomal dominant spinocerebellar ataxia


name: mitochondrial complex 1 deficiency, nuclear type 19


chronic bilirubin encephalopathy

description: A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.


secondary polyarteritis nodosa

description: Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).


retinitis pigmentosa 29

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.


epididymis cancer

description: A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.


uterine corpus cancer

description: A malignant neoplasm involving the body of uterus.


name: PNPLA6-related spastic paraplegia with or without ataxia

description: An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.


cytokine receptor deficiency

description: A disease that has its basis in the disruption of cytokine receptor activity.


apperceptive agnosia

description: An agnosia that is a loss of the ability to distinguish visual shapes.


name: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


name: camptodactyly syndrome, Guadalajara type 3

description: Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.


eyelid cancer

description: A cancer that involves the eyelid.


name: ciliary dyskinesia with transposition of ciliary microtubules


name: bone marrow failure and diabetes mellitus syndrome


chromosome 20 disorder

description: Chromosomal disorder in which chromosome 20 is affected.


name: human betaherpesvirus 5 infectious disease

description: A disease caused by infection with Human betaherpesvirus 5.


name: autosomal dominant nonsyndromic hearing loss 21

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.


acute leukemia of ambiguous lineage

description: An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)


name: disorder of defective peroxisome oxidative status

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


endocervical type cervical adenomyoma

description: An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.


name: chromosome 5Q14.3 deletion syndrome, distal


eccrine sweat gland hamartoma

description: A hamartoma characterized by localized eccrine sweat gland malformation.


leukoplakia of penis

description: A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.


name: muscular dystrophy, congenital, with rapid progression


RPE65-related recessive retinopathy

description: A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.


name: persistent left superior vena cava connecting to the left-sided atrium

description: Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persistent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.


mouth mucosa disorder, non-human animal

description: Mouth mucosa disorder that occurs in non-human animals.


tracheal lymphoma

description: A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.


name: Wiskott-Aldrich syndrome, autosomal dominant form


laryngeal granuloma

description: A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.


name: hyper-IgE recurrent infection syndrome 5, autosomal recessive


testis rhabdomyosarcoma

description: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.


name: chemodectoma, intraabdominal, with cutaneous angiolipomas


intravenous leiomyomatosis

description: A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.


name: non-specific autoimmune brainstem encephalitis without characteristic antibodies


basilar artery occlusion

description: Evidence of occlusion and stenosis of basilar artery.


testicular trophoblastic tumor

description: A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.


ASAH1-related disorders

description: The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukocytes or cultured skin fibroblasts.


name: well differentiated papillary mesothelioma

description: A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.


Plummer disease

description: Nodular enlargement of the thyroid gland associated with hyperthyroidism.


HBA1-related alpha thalassemia spectrum

description: Mild microcytic anemia caused by biallelic variation in the HBA1 gene.


deficiency of adenosine deaminase 2

description: Any disease or disorder in which the cause of the disease is a mutation in the ADA2 gene.


name: acute myeloid leukemia, KIT exon 17 mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)


urogenital tuberculosis

description: A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.


name: spastic paraplegia-glaucoma-intellectual disability syndrome

description: Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.


name: internal carotid artery, spontaneous dissection of


immune epilepsy

description: Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.


name: familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome


papillary conjunctivitis

description: Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.


name: EBV-positive T-cell lymphoproliferative disorder of childhood

description: An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.


Hoyeraal-Hreidarsson syndrome

description: Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.


name: benign angiitis of the central nervous system

description: A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.


name: intellectual disability-myopathy-short stature-endocrine defect syndrome

description: Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.


synovial chondromatosis

description: Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.


opportunistic mycosis

description: A mycosis that arises from infection in an immunologically compromised host.


infectious encephalitis

description: An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.


name: Greig cephalopolysyndactyly-contiguous gene syndrome


name: auditory neuropathy, autosomal dominant 2


name: pulmonic stenosis and congenital nephrosis


name: multiple congenital anomalies/dysmorphic syndrome without intellectual disability


pancreatic cancer, susceptibility to, 2

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.


hyperdibasic aminoaciduria type 1

description: Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.


hypertrichosis lanuginosa congenita

description: Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.


peripheral nervous system cancer

description: Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location


renal dysplasia

description: Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.


name: blepharophimosis-ptosis-epicanthus inversus syndrome type 2


hemorrhagic disease of newborn

description: A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.


urachus cancer

description: A malignant neoplasm involving the urachus.


name: ectodermal dysplasia-cutaneous syndactyly syndrome


loiasis

description: Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.


pediatric Castleman disease

description: Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.


ATP6AP2-related disorder

description: Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.


cough variant asthma

description: An asthma that is characterized by chronic nonproductive cough without shortness of breath.


chronic childhood arthritis

description: An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.


name: partial deletion of the short arm of chromosome 11


name: oocyte/zygote/embryo maturation arrest 17


name: disorder of vitamin and non-protein cofactor absorption and transport


autoimmune autonomic ganglionopathy

description: A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.


retina neoplasm

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


name: hereditary sclerosing poikiloderma, Weary type


name: immunodeficiency 74, COVID-19-related, X-linked


name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form


name: microcornea-glaucoma-absent frontal sinuses syndrome

description: Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.


name: neuronopathy, distal hereditary motor, autosomal recessive 9


name: Ehlers-Danlos syndrome, Beasley-Cohen type


infancy electroclinical syndrome

description: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.


name: partial deletion of the long arm of chromosome 19


IMPG2-related recessive retinopathy

description: Any retinopathy caused by bi-allelic variants in the IMPG2 gene.


name: neurodevelopmental disorder with microcephaly, short stature, and speech delay


name: dwarfism, proportionate, with hip dislocation


name: partial deletion of the long arm of chromosome 13

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.


Astley-Kendall dysplasia

description: Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.


name: Okihiro syndrome due to 20q13 microdeletion


cerebellar liponeurocytoma

description: A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)


description: Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.


name: spinocerebellar ataxia, autosomal recessive 30


chromosome 3 disorder

description: Chromosomal disorder in which chromosome 3 is affected.


calcium metabolic disease

description: Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.


superficial siderosis

description: Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.


name: partial trisomy of the long arm of chromosome 16


anterior cerebral artery infarction

description: Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.


name: parkinsonism with dementia of Guadeloupe

description: Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.


name: hypermetabolism due to defect in mitochondria


benign neoplasm of gum

description: A benign neoplasm that involves the gingiva.


cheilitis glandularis

description: Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.


cardiovascular neoplasm

description: A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.


stromal sarcoma

description: A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.


Hunter-McAlpine craniosynostosis

description: Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).


name: syndrome caused by partial chromosomal deletion

description: A chromosomal disorder consisting of the absence of a part of a chromosome.


onychomatricoma

description: A neoplasm involving a UBERON:0002283.


external hirudiniasis

description: The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.


overlap myositis

description: Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.


name: dentin dysplasia-sclerotic bones syndrome

description: A rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.


amyopathic dermatomyositis

description: A form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.


name: diarrhea, glucose-stimulated secretory, with common variable immunodeficiency


description: Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.


bulbomembranous urethral cancer

description: A malignant neoplasm that affects the bulbomembranous part of the urethra.


paraneoplastic pemphigus

description: Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare.


name: ichthyosis congenita with biliary atresia


Bacteroides infectious disease

description: Infections with bacteria of the genus bacteroides.


O'Sullivan-McLeod syndrome

description: O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.


name: atypical hemolytic uremic syndrome with complement gene abnormality


urinary tract obstruction

description: Blockage of the normal flow of contents of the urinary tract.


cortical blindness

description: Visual impairment due to visual cortex dysfunction.


name: dyskeratosis congenita, autosomal recessive 8


mouth mucosa disorder

description: A disease or disorder that involves the mouth mucosa.


name: keratoconus and congenital hip dysplasia


meningovascular neurosyphilis

description: A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.


name: maternal uniparental disomy of chromosome 4

description: Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


choroid plexus neoplasm

description: An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.


name: optic atrophy--spastic paraplegia syndrome


familial adenomatous polyposis 1

description: Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.


familial primary pulmonary hypoplasia

description: Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.


name: acute necrotizing encephalopathy of childhood

description: Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.


petrositis

description: Inflammation of petrous bone.


Alphavirus infectious disease

description: Virus diseases caused by members of the alphavirus genus of the family togaviridae.


name: plasma clot retraction factor, deficiency of


foodborne botulism

description: Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.


name: skeletal dysplasia-epilepsy-short stature syndrome

description: Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.


hyperglobulinemic purpura

description: Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.


optic atrophy 2

description: A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.


name: laryngeal atresia, encephalocele, and limb deformities


chemotherapy-induced oral mucositis

description: Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.


orbital leiomyoma

description: Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.


name: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8


name: intellectual disability, keratoconus, febrile seizures, and sinoatrial block


streptobacillary rat-bite fever

description: Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.


calcifying fibrous tumor

description: A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.


name: neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities


localized osteosarcoma

description: A non-disseminated osteosarcoma.


low grade fibromyxoid sarcoma

description: A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.


dermatomycosis

description: Superficial infections of the skin or its appendages by any of various fungi.


hereditary spastic paraplegia 25

description: Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.


name: epidermolytic hyperkeratosis 2B, autosomal recessive


name: intellectual developmental disorder, autosomal recessive 77


name: pancytopenia and occlusive vascular disease


latent syphilis

description: A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.


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

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.


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.


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.


name: intellectual disability, autosomal dominant 58


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: intellectual disability, autosomal recessive 33


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.


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.


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


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.


canine pancreatic carcinoma

description: Pancreatic carcinoma that occurs in a dog.


name: combined oxidative phosphorylation deficiency 48


vestibular gland benign neoplasm

description: A benign neoplasm that involves the vestibular gland.


benign neoplasm of salivary gland

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


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.


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.


benign neoplasm of trachea

description: A benign neoplasm that involves the trachea.


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.


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).


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.


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: isolated focal cortical dysplasia type IIb


muscular dystrophy, turkey

description: Muscular dystrophy that occurs in turkey.


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


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: 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


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


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.


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.


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: 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


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.


disorder of peroxisomal alpha oxidation

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


segmental dystonia

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


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


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: 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.


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.


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


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: microcephaly, macrotia, and intellectual disability


Pseudomonas aeruginosa CF5 infection

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


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.


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.


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.)


name: spastic paraplegia 81, autosomal recessive


name: ichthyosiform erythroderma, corneal involvement, and hearing loss


name: proteasome-associated autoinflammatory syndrome 2


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.


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.