beta-mannosidosis

description: Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.


name: anemia, nonspherocytic hemolytic, due to G6PD deficiency

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

description: Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.


name: anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane


name: anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism


name: heritable pulmonary arterial hypertension

description: Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.


Grade 1 Oligospermia, CTCAE

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Sperm concentration > 0 to < 15 million/ml


amino sulfonic acid

An organosulfonic acid containing one or more amino groups.


Childhood Acute Eosinophilic Leukemia

description: An acute eosinophilic leukemia occurring in children.


trisomy 8q

description: Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.


chromosome 8 disorder

description: Chromosomal disorder in which chromosome 8 is affected.


name: partial duplication of the short arm of chromosome 8

description: Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. 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 8p 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.


chromosome 8, trisomy

description: A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.


name: chromosome 8Q12.1-q21.2 deletion syndrome


monosomy chromosome 8

description: A chromosomal disorder consisting of the absence of one chromosome 8.


8q22.1 microdeletion syndrome

description: The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.


8p23.1 duplication syndrome

description: 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).


name: partial deletion of the long arm of chromosome 8

description: Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. 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 8q 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.


8p23.1 microdeletion syndrome

description: 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.


distal trisomy 8q

description: Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).


name: partial deletion of the short arm of chromosome 8

description: Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


name: partial duplication of the long arm of chromosome 8


mesomelia-synostoses syndrome

description: A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.


mosaic trisomy 8

description: Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.


chromosome 8q21.11 deletion syndrome

description: Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.


8p11.2 deletion syndrome

description: 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.


8q12 microduplication syndrome

description: The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.


name: 8p inverted duplication/deletion syndrome

description: 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.


trisomy 8p

description: Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.


CIC-rearranged sarcoma

description: An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.


Childhood CIC-Rearranged Sarcoma

description: A CIC-rearranged sarcoma that occurs during childhood.


name: Central Nervous System CIC-Rearranged Sarcoma

description: A rare, undifferentiated, high grade small round cell sarcoma that arises from the central nervous system. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 resulting in CIC gene fusion with different gene partners.


CIC-DUX4L Sarcoma

description: An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4L gene on chromosome 10. The translocation results in CIC-DUX4L, t(10;19)(q26;q13) fusions.


disease

description: A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.


name: sporadic adult-onset ataxia of unknown etiology

description: Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.


name: hypogonadotropic hypogonadism 13 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.


name: craniosynostosis arthrogryposis cleft palate


baclofen withdrawal syndrome

description: Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.


name: hereditary thrombocytopenia and hematologic cancer predisposition syndrome

description: The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.


name: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

description: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.


acute pharyngitis

description: An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.


benign melanocytic skin nevus

description: A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.


acquired ichthyosis

description: Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications.


abducens nerve palsy

description: Paralysis of the abducens nerve.


classic congenital adrenal hyperplasia

description: A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.


brittle cornea syndrome 2

description: Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.


Guillain-Barre syndrome, familial

description: A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.


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


associative visual agnosia

description: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.


name: polydactyly of an index finger, unilateral


name: congenital generalized lipodystrophy type 1

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.


pedophilia

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.


inflammatory disease

description: A disease involving a pathogenic inflammatory response in the anatomical structure.


name: intellectual disability, autosomal recessive 29


necrotizing sialometaplasia

description: A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.


dendritic cell sarcoma

description: A sarcoma that involves the dendritic cell.


simple cryoglobulinemia

description: Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.


cyanide-induced parkinsonism

description: Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.


name: autosomal recessive non-syndromic intellectual disability

description: Autosomal recessive form of non-syndromic intellectual disability.


trisomy 21

description: A chromosomal disorder consisting of the presence of an extra chromosome 21.


name: mirror movements 1 and/or agenesis of the corpus callosum

description: A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).


5-fluorouracil poisoning

description: 5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.


Flaviviridae infectious disease

description: Infections with viruses of the family flaviviridae.


name: endometrioid stromal and related neoplasms

description: A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.


name: short stature with microcephaly and distinctive facies


panic disorder without agoraphobia

description: A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.


prostate neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.


Al Gazali Khidr Prem Chandran syndrome

description: A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.


acute quadriplegic myopathy

description: Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.


oculomotor nerve neoplasm

description: A neoplasm involving a oculomotor nerve.


haemophilus meningitis

description: Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.


nonsyndromic congenital nail disorder 1

description: Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails.


name: recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

description: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.


seminal vesicle tumor

description: A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.


precocious puberty, central, 2

description: Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.


infiltrating angiolipoma

description: An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.


name: radiation sensitivity/chromosome instability syndrome, autosomal dominant


hemi-myeloschisis

description: A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis.


name: malignant migrating partial seizures of infancy

description: A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.


name: hereditary sensory and autonomic neuropathy

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


Lewis-Sumner syndrome

description: A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.


name: autosomal recessive congenital ichthyosis 4A

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.


NAA10-related syndrome

description: Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

description: A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.


bullous lichen planus

description: Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.


name: intellectual disability, autosomal recessive 58

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.


hyperlipoproteinemia, type 1D

description: Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.


name: megalencephalic leukoencephalopathy with subcortical cysts 1


name: pelvic dysplasia-arthrogryposis of lower limbs syndrome


name: early T cell progenitor acute lymphoblastic leukemia

description: T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.


UROD-related inherited porphyria

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


endocrine tuberculosis

description: Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.


uterine corpus carcinofibroma

description: An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.


name: non-recovering obstetric brachial plexus lesion


name: complete atrioventricular canal-tetralogy of fallot syndrome


orbital dermoid cyst

description: A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.


name: spastic paraplegia 80, autosomal dominant


name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


disorder of gluconeogenesis

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


vascular parkinsonism

description: A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.


focal segmental glomerulosclerosis 9

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.


name: congenital anomalies of kidney and urinary tract 3


name: intellectual developmental disorder, autosomal dominant 72

description: An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.


hypoglossal nerve disorder

description: A disease involving the hypoglossal nerve.


eccrine acrospiroma

description: A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.


name: lymphoma, Hodgkin, Y-linked pseudoautosomal


Reynolds syndrome

description: An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).


monosomy 21

description: Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.


name: congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies

description: Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.


name: growth delay due to insulin-like growth factor type 1 deficiency

description: Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.


name: familial hyperinflammatory lymphoproliferative immunodeficiency


name: lissencephaly spectrum disorder with complex brainstem malformation

description: A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).


WT limb-blood syndrome

description: WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.


fetal akinesia deformation sequence 1

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


sciatic neuropathy

description: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)


axial spondylometaphyseal dysplasia

description: Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.


centrifugal lipodystrophy

description: Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.


torsion dystonia 17

description: A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.


familial bicuspid aortic valve

description: A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).


immunodeficiency 76

description: An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.


name: autosomal recessive pseudohypoaldosteronism type 1

description: Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.


name: congenital heart defects, multiple types, 3


seminal vesicle acute gonorrhea

description: Acute form of gonococcal seminal vesiculitis.


hyperparathyroidism 2 with jaw tumors

description: An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.


name: hereditary angioedema with normal C1inh not related to F12 or PLG variant


trench fever

description: An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.


name: ectodermal dysplasia neurosensory deafness


severe congenital nemaline myopathy

description: Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.


name: encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


chromosome 13 disorder

description: Chromosomal disorder in which chromosome 13 is affected.


st. Louis encephalitis

description: A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)


adult onset pityriasis rubra pilaris

description: A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.


inflammatory myofibroblastic tumor

description: A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.


chronic pain syndrome

description: Chronic form of disorder involving pain.


name: neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities


name: combined oxidative phosphorylation deficiency 28

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.


name: metachromatic leukodystrophy, adult form


name: undifferentiated connective tissue syndrome

description: An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.


name: peroxisome biogenesis disorder due to PEX11B defect

description: Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.


name: mitochondrial complex 1 deficiency, nuclear type 36


cataract 32 multiple types

description: A cataract that has material basis in mutation in the region 14q22-q23.


name: autosomal recessive congenital ichthyosis 4B

description: Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.


testicular sex cord-stromal neoplasm

description: A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.


name: neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features


primary ciliary dyskinesia 23

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.


name: skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


myoclonic epilepsy of Lafora 1

description: Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene.


transient pseudohypoaldosteronism

description: Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.


name: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


name: immunodeficiency 115 with autoinflammation


description: Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).


morphine dependence

description: Strong dependence, both physiological and emotional, upon morphine.


podoconiosis

description: A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.


name: mitochondrial complex 1 deficiency, nuclear type 4


name: uterine corpus endometrial stromal sarcoma

description: A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.


inflammatory leiomyosarcoma

description: A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.


name: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


name: ciliary dyskinesia, primary, 48, without situs inversus


retinitis pigmentosa 3

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


myotonic dystrophy

description: An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.


acrocephalopolysyndactyly

description: A common presentation of craniosynostosis and polysyndactyly.


name: microcephaly, seizures, and developmental delay


familial rhabdoid tumor

description: A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.


cataract 10 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.


atrial fibrillation, familial, 3

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.


name: B-lymphoblastic leukemia/lymphoma with IAMP21

description: A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.


name: autoimmune disorder of musculoskeletal system

description: A hypersensitivity reaction type II disease that involves the musculoskeletal system.


retinitis pigmentosa 46

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.


sporadic hemiplegic migraine

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


focal dermal hypoplasia

description: A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.


name: basal ganglia calcification, idiopathic, 8, autosomal recessive


dry age related macular degeneration

description: Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.


Lelis syndrome

description: Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.


hereditary spastic paraplegia 53

description: A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.


symmetrical thalamic calcifications

description: Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.


hereditary sensory neuropathy X-linked

description: A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.


chronic pulmonary heart disease

description: Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.


name: autosomal recessive nonsyndromic hearing loss 88

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.


name: combined oxidative phosphorylation deficiency

description: A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.


GUCY2D-related dominant retinopathy

description: A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.


exudative vitreoretinopathy

description: Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.


name: neoplasm with perivascular epithelioid cell differentiation

description: A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.


urachal sinus

description: Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.


hereditary spastic paraplegia 2

description: Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.


triopia

description: A craniofacial malformation with prosencephalic duplication; the presence of three eyes.


mirror agnosia

description: An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.


description: Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.


Reoviridae infectious disease

description: Infections produced by reoviruses, general or unspecified.


description: Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.


methylcobalamin deficiency type cblG

description: Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.


name: Hao-Fountain syndrome due to 16p13.2 microdeletion

description: A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.


mesothelial neoplasm

description: A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003


thoracic disk degenerative disorder

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


duplication/inversion 15q11

description: Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.


trigeminal autonomic cephalalgia

description: A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.


urethra leiomyoma

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


granulomatous endometritis

description: Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.


Oguchi disease-2

description: Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.


avian influenza

description: Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.


cytophagic histiocytic panniculitis

description: Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.


tetrasomy 5p

description: Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).


aminoacylase 1 deficiency

description: Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.


GUCY2D-related recessive retinopathy

description: A retinopathy caused by biallelic variants in the GUCY2D gene.


name: hypouricemia, familial renal, due to tubular hypersecretion


name: painful orbital and systemic neurofibromas-marfanoid habitus syndrome


acquired motor neuron disease

description: An instance of motor neuron disease that is acquired during the lifetime of the individual.


name: acromesomelic dysplasia, Campailla Martinelli type


name: autosomal dominant Charcot-Marie-Tooth disease type 2K

description: Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.


name: coronary artery disease, autosomal dominant 2

description: Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.


agenesis of the superior vena cava

description: Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.


chronic rheumatic pericarditis

description: Chronic form of rheumatic pericarditis.


nasal cavity inverting papilloma

description: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.


neuronal ceroid lipofuscinosis 8

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.


Charcot-Marie-Tooth disease type 4F

description: Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.


Bartter disease type 4B

description: A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.


name: Pelizaeus-Merzbacher disease, transitional form

description: The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.


cryohydrocytosis

description: A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.


name: hypogonadotropic hypogonadism 11 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.


adrenomyeloneuropathy

description: An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.


description: Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.


Lowry-Wood syndrome

description: Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.


ATF6-related retinopathy

description: A retinopathy caused by biallelic variants in the AFT6 gene.


name: familial reactive perforating collagenosis

description: Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.


Leber congenital amaurosis 6

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.


eosinophilic pustular folliculitis

description: Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.


name: fibrosis of extraocular muscles, congenital, 2

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.


oligocone trichromacy

description: Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision.


description: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.


ulerythema ophryogenesis

description: Ulerythema ophryogenesis is characterized by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.


name: autosomal recessive ataxia due to PEX2 deficiency


amino acid metabolism disease

description: A disease that has its basis in the disruption of cellular amino acid metabolic process.


name: developmental anomaly of metabolic origin


Loeys-Dietz syndrome 4

description: Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.


Terrien marginal degeneration

description: A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism


description: A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.


congenital dyserythropoietic anemia

description: Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.


name: sickle cell-hemoglobin E disease syndrome

description: A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).


childhood malignant melanoma

description: A melanoma that occurs during childhood.


hypotrichosis 9

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.


isolated agammaglobulinemia

description: Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.


ring chromosome 7

description: Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).


aluminosis

description: Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.


cocaine abuse

description: Disorders related or resulting from use of cocaine.


name: frontonasal dysplasia with alopecia and genital anomaly

description: Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.


cesium poisoning

description: A heavy metal poisoning that is caused by exposure to cesium.


Hepadnaviridae infectious disease

description: Virus diseases caused by the hepadnaviridae.


central diabetes insipidus

description: Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).


premature ovarian failure 11

description: Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.


name: hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

description: This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.


Ascaridida infectious disease

description: Infections with nematodes of the order ascaridida.


well-differentiated liposarcoma

description: A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.


hyperekplexia 4

description: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).


name: congenital infiltrating lipomatosis of the face


1q44 microdeletion syndrome

description: 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.


name: congenital muscular dystrophy caused by variation in POMGNT2

description: Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.


name: postaxial polydactyly type A, unilateral


inherited auditory system disease

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


axillary lymphadenitis

description: An infection of the lymph nodes in the axilla.


name: autosomal recessive nonsyndromic hearing loss 24

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


primary ciliary dyskinesia 1

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.


name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome.


glycogen storage disease VI

description: Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.


name: qualitative or quantitative defects of titin


acute myeloid leukemia, t(11;17)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)


myopia 6

description: Any myopia in which the cause of the disease is a mutation in the SCO2 gene.


pseudohypoaldosteronism type 2

description: A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.


crush syndrome

description: A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.


mixed germ cell tumor

description: A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.


benign neoplasm of corpus uteri

description: A benign neoplasm that involves the body of uterus.


name: non-acquired pituitary hormone deficiency


toxascariasis

description: Infections with nematodes of the genus toxascaris.


moderate hypophosphatasia

description: Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood.


spinocerebellar ataxia 47

description: A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.


kyphoscoliotic heart disease

description: Evidence of kyphoscoliotic heart disease.


aneuploidy

description: Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.


corneal dystrophy, Fuchs endothelial, 3

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.


encephalitis lethargica

description: A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.


mixed cryoglobulinemia type III

description: Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.


cancerophobia

description: An overwhelming, irrational, and persistent fear of being diagnosed with cancer.


name: male infertility with teratozoospermia due to single gene mutation

description: Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.


name: corpus callosum dysgenesis hypopituitarism


benign thyroid gland neoplasm

description: A benign neoplasm arising from the thyroid gland.


laryngo-onycho-cutaneous syndrome

description: LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.


nephronophthisis 7

description: Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.


retinal capillary malformation

description: Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.


TCF12-related craniosynostosis

description: Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.


name: combined oxidative phosphorylation deficiency 32


postauricular lymphadenitis

description: Inflammation of the postauricular lymph nodes.


name: glycerol kinase deficiency, infantile form

description: Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.


isolated dystonia

description: A dystonia (disease) that is not part of a larger syndrome.


Bartter disease type 3

description: Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


monocular esotropia

description: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.


name: hereditary sensory and autonomic neuropathy type 4

description: Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.


filarial elephantiasis

description: Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.


childhood acute lymphoblastic leukemia

description: An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.


epithelial-stromal TGFBI dystrophy

description: Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.


name: congenital generalized lipodystrophy type 2

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.


cataract 42

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.


name: adult progressive spinal muscular atrophy, Aran Duchenne type

description: A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.


name: autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


name: polyneuropathy, inflammatory demyelinating, chronic


name: paternal uniparental disomy of chromosome 21

description: Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


inverse Marcus-Gunn phenomenon

description: Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.


vasculogenic impotence

description: Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.


name: infantile neuronal ceroid lipofuscinosis

description: A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.


name: isolated autosomal dominant hypomagnesemia, Glaudemans type

description: Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.


bulbar polio

description: A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)


limb ischemia

description: A ischemia that involves the limb.


name: idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation


name: pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


name: Niemann-Pick disease type C, severe early infantile neurologic onset


vagina leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells.


name: pituitary deficiency due to empty sella turcica syndrome


cutaneous botryomycosis

description: A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).


name: malignant giant cell tumor of soft parts

description: An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.


coinfection

description: The simultaneous infection of a host by multiple pathogen species.


name: hydrocephalus, congenital, 3, with brain anomalies


name: nasal cavity and paranasal sinus neoplasm

description: A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


glycerol kinase deficiency, adult form

description: Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.


Gaucher disease type III

description: Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.


name: endometrioid stromal and related neoplasms of the cervix

description: A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.


Marie Unna hereditary hypotrichosis

description: A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.


bacterial sexually transmitted disease

description: Bacterial diseases that are potentially transmitted or propagated by sexual conduct.


connective and soft tissue neoplasm

description: A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.


extrarenal rhabdoid tumor

description: A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.


name: radial deficiency-tibial hypoplasia syndrome


achondrogenesis

description: Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.


ureter leiomyoma

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


name: intellectual developmental disorder, X-linked 110


intracranial abscess

description: An abscess that is located in the intracranial space.


name: erythrokeratodermia variabilis et progressiva 3


alexithymia

description: An agnosia that is a deficiency in understanding, processing, or describing emotions.


name: precursor T-cell acute lymphoblastic leukemia


homocarnosinosis

description: Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.


name: spinal muscular atrophy with respiratory distress type 2

description: Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.


name: myopathy with hexagonally cross-linked tubular arrays

description: Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.


name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss


postaxial acrofacial dysostosis

description: Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.


name: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

description: A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.


nasal dermoid cyst

description: A dermoid cyst that involves the nose.


name: combined immunodeficiency due to GINS1 deficiency


spinal cord ischemia

description: Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.


hypotrichosis 10

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.


name: autosomal dominant epidermolytic ichthyosis

description: An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility.


scleral disorder

description: A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.


Banki syndrome

description: Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.


large cell medulloblastoma

description: A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.


Warburg micro syndrome 3

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.


exfoliative ichthyosis

description: Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.


platelet-type bleeding disorder 8

description: P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.


integrative agnosia

description: Agnosia characterized by the inability to integrate perceptual wholes within knowledge.


name: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

description: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.


cataract 26 multiple types

description: A cataract that has material basis in variation in the region 9q13-q22.


non-seminomatous lesion

description: A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.


chronic salpingitis

description: Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.


name: X-linked intellectual disability, Cantagrel type

description: X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.


name: short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia


male infertility due to globozoospermia

description: Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.


alternating hemiplegia of childhood 2

description: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.


name: epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

description: A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.


endothrix infectious disease

description: A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.


Olmsted syndrome 1

description: Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.


name: epidermolysis bullosa simplex 2E, with migratory circinate erythema

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.


tibial aplasia-ectrodactyly syndrome

description: Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.


name: spinocerebellar ataxia, autosomal recessive 25


name: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.


name: autosomal dominant cerebellar ataxia type II

description: An autosomal dominant inherited neurodegenerative disorder caused by mutations in the ATXN7 gene. It is characterized by progressive cerebellar ataxia, including dysarthria and dysphagia, cone-rod and retinal dystrophy, and progressive central visual loss resulting in blindness.


hypotonia-cystinuria syndrome

description: A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.


myofibrillar myopathy 4

description: Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.


name: autosomal dominant cerebellar ataxia type III

description: Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.


laryngeal leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells.


human prion disease

description: Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).


Eagle syndrome

description: Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.


description: An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.


name: autosomal dominant nonsyndromic hearing loss 13

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.


name: hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


retinoschisis, autosomal dominant

description: Autosomal dominant form of retinoschisis.


description: Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.


name: amyotrophic lateral sclerosis 26 with or without frontotemporal dementia


name: classic eosinophilic pustular folliculitis


name: circadian rhythm sleep disorder, irregular sleep wake type

description: A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.


disorder of sphingolipid biosynthesis

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


schizophrenia 10

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.


name: autosomal dominant nonsyndromic hearing loss

description: Autosomal dominant form of nonsyndromic deafness.


isolated congenital anonychia

description: Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.


hemochromatosis type 2A

description: Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.


pleomorphic rhabdomyosarcoma

description: An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.


name: combined oxidative phosphorylation defect type 23

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.


name: methylmalonic aciduria and/or homocystinuria, cblD type

description: An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.


name: autosomal dominant combined immunodeficiency due to partial IL6ST deficiency


thyroid dyshormonogenesis 2A

description: Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.


schizophrenia 1

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.


miliaria profunda

description: A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.


skull cancer

description: A malignant neoplasm involving the skull.


Leber congenital amaurosis 13

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.


fructose-1,6-bisphosphatase deficiency

description: Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.


name: intellectual disability, autosomal recessive 19


hydroa vacciniforme, familial

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


name: spinocerebellar ataxia, autosomal recessive 31


name: short-rib thoracic dysplasia 20 with polydactyly

description: Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).


name: combined oxidative phosphorylation defect type 4

description: Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.


polydactyly of an index finger

description: Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.


name: autosomal dominant nonsyndromic hearing loss 6

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.


name: atypical hemolytic-uremic syndrome with anti-factor H antibodies


acquired mineral metabolism disease

description: An instance of mineral metabolism disease that is acquired during the lifetime of the individual.