multiple endocrine neoplasia type 4

description: Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.


name: infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

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

description: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.


name: neuronopathy, distal hereditary motor, autosomal recessive 3

description: A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.


mixed phenotype acute leukemia

description: An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.


NEK9-related lethal skeletal dysplasia

description: NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.


Brugada syndrome 4

description: Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.


name: polycystic kidney disease 6 with or without polycystic liver disease

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.


name: neuronopathy, distal hereditary motor, type 7A

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.


name: preaxial digit brachydactyly-webbed fingers


name: combined oxidative phosphorylation deficiency 51


cassavism

description: A poisoning that is caused by exposure to fruit of the Cassava plant (Manihot esculenta), contains linamarin, a cyanogenic glucoside. If a person eats improperly prepared products, cassavism (locally termed konzo or mantakassa) may develop, which features toxic ataxic neuropathy.


name: factor V and factor VIII, combined deficiency of, type 1

description: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.


acute undifferentiated leukemia

description: A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.


name: progressive familial heart block type IB

description: Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.


congenital vascular malformation

description: A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.


neonatal Marfan syndrome

description: Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.


ringed hair disease

description: Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.


inborn aminoacylase deficiency

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


name: generalized epilepsy with febrile seizures plus, type 12


paratesticular lipoma

description: A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.


Weill-Marchesani syndrome 3

description: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.


loricrin keratoderma

description: A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.


nephronophthisis 4

description: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.


name: neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities


primary ciliary dyskinesia 32

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.


Olmsted syndrome

description: A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.


name: 46,XX ovarian dysgenesis-short stature syndrome


prekallikrein deficiency

description: A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.


Toriello-Lacassie-Droste syndrome

description: Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.


acquired primary ovarian failure

description: An instance of primary ovarian failure that is acquired during the lifetime of the individual.


Thiemann disease, familial form

description: Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.


name: generalized epilepsy with febrile seizures plus, type 9

description: Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.


name: acute myeloid leukemia, t(6;11)(q27;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)


chronic asthma

description: An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.


autosomal dominant primary microcephaly

description: Autosomal dominant form of microcephaly (disease).


brachial plexus neoplasm

description: A neoplasm (disease) that involves the brachial nerve plexus.


name: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures


aortic aneurysm, familial thoracic 10

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


nephrotic syndrome, type 3

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.


name: combined oxidative phosphorylation defect type 26

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.


ring chromosome 9

description: Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.


name: neurodevelopmental disorder with severe motor impairment and absent language


primary adult heart tumor

description: Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).


spongiotic dermatitis

description: A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.


name: intellectual developmental disorder, autosomal dominant 69


name: microphthalmia, isolated, with coloboma 3

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.


name: Pelger-Huet-like anomaly and episodic fever with abdominal pain

description: An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.


myoclonic dystonia 11

description: Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.


name: renal tubulopathy-encephalopathy-liver failure syndrome

description: Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.


benign eccrine neoplasm

description: A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.


narcolepsy-cataplexy syndrome

description: A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).


sensory ganglionopathy

description: A disease or disorder that involves the sensory ganglion.


disorder of optic chiasm

description: A disease that involves the optic chiasma.


name: congenital dyserythropoietic anemia type type 1B


name: amyotrophic lateral sclerosis with polyglucosan bodies


name: medulloblastoma with extensive nodularity

description: Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.


name: neurodevelopmental disorder with progressive movement abnormalities


name: Charcot-Marie-Tooth disease, axonal, IIa 2II


Bruck syndrome 1

description: Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.


name: combined immunodeficiency due to RELA haploinsufficiency


glucocorticoid deficiency 1

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.


retinitis pigmentosa 41

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.


name: developmental and epileptic encephalopathy, 13

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.


hot water reflex epilepsy

description: Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.


pemphigus erythematosus

description: Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.


name: autosomal dominant optic atrophy plus syndrome

description: Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.


name: agenesis of the corpus callosum with peripheral neuropathy

description: Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.


oesophagostomiasis

description: Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.


retinohepatoendocrinologic syndrome

description: Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.


name: X-linked intellectual disability with marfanoid habitus

description: The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.


description: Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.


name: congenital disorder of deglycosylation 2


proximal-type epithelioid sarcoma

description: An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.


name: myeloid/lymphoid neoplasm associated with JAK2 rearrangement

description: Hematologic neoplasms characterized by the presence of t(8;9)(p22;p24.1) that results in PCM1-JAK2 fusion gene expression. It is associated with eosinophilia, bone marrow findings of left-shifted erythroid predominance, lymphoid aggregates, and often myelofibrosis. Rare cases present as T- or B-acute lymphoblastic leukemia.


acute closed-angle glaucoma

description: Acute form of angle-closure glaucoma.


hereditary spastic paraplegia 51

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.


cataract 22 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.


bipartite talus

description: Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.


frontal lobe epilepsy

description: A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)


name: developmental and epileptic encephalopathy, 4

description: Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.


name: neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies


potassium deficiency

description: A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)


benign chondrogenic neoplasm

description: A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.


name: limbic encephalitis with LGI1 antibodies

description: Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.


bowenoid papulosis

description: Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.


name: autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


name: epidermolysis bullosa simplex 5B, with muscular dystrophy

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.


RNU7-1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


Ritscher-Schinzel syndrome 2

description: Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.


name: encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


diffuse scleroderma

description: A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.


sialidosis type 2

description: A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.


choroid neoplasm

description: A neoplasm (disease) that involves the optic choroid.


benign neoplasm of brain stem

description: A benign neoplasm that involves the brainstem.


name: mesomelic dwarfism, Reinhardt-Pfeiffer type

description: Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.


transient arthropathy

description: Arthropathy that is not permanent.


description: Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).


Kimura disease

description: Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.


name: peroxisome biogenesis disorder, complementation group 3


name: spondyloepiphyseal dysplasia tarda, X-linked

description: X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.


Charcot-Marie-Tooth disease type 4B1

description: Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).


description: A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.


platelet-type bleeding disorder 17

description: An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.


name: mitochondrial complex 1 deficiency, nuclear type 7


name: hyperinsulinemic hypoglycemia with polycystic kidney disease

description: Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter.


benign metanephric tumor

description: A benign neoplasm that involves the metanephros.


testis refractory cancer

description: Malignant testicular germ cell tumor that is resistant to treatment.


name: combined deficiency of factor VII and factor X


Miyoshi myopathy

description: A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.


name: retinal dystrophy in systemic or cerebroretinal lipidoses


inherited Creutzfeldt-Jakob disease

description: Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.


name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

description: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.


HBA2-related alpha thalassemia spectrum

description: Mild microcytic anemia caused by biallelic variation in the HBA2 gene.


chronic cervicitis

description: Chronic inflammation of the cervix.


mesomelic dysplasia

description: A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).


limbic encephalitis

description: A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.


juvenile temporal arteritis

description: Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.


name: mitochondrial myopathy-lactic acidosis-deafness syndrome

description: Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.


cataract 24

description: A cataract that has material basis in variation in the region 17p13.


pediatric osteosarcoma

description: An osteosarcoma occurring in childhood.


cataract 17 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.


cancer affecting bone of limb skeleton

description: A cancer that involves the limb bone.


ciliary body neoplasm

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


chromosome 5p13 duplication syndrome

description: 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).


name: partial deletion of the short arm of chromosome 10


Leri pleonosteosis

description: Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.


name: dyskeratosis congenita, autosomal dominant 6

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.


name: mixed epithelial stromal tumor of the kidney

description: A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.


name: autosomal dominant progressive external ophthalmoplegia

description: Autosomal dominant form of progressive external ophthalmoplegia.


hair nevus

description: A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.


name: autosomal recessive nonsyndromic hearing loss 31

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


Venezuelan equine encephalitis

description: A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.


pontocerebellar hypoplasia type 5

description: Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.


name: benign infantile seizures associated with mild gastroenteritis

description: Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.


progressive myoclonic epilepsy type 8

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.


spinocerebellar ataxia type 15/16

description: Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.


name: immunodeficiency due to a late component of complement deficiency

description: A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.


name: spondylometaphyseal dysplasia, East African type


name: neuronopathy, distal hereditary motor, autosomal dominant 8

description: Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.


name: optic atrophy 13 with retinal and foveal abnormalities


name: diffuse idiopathic skeletal hyperostosis

description: This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.


name: congenital pulmonary airway malformation type 2


name: optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy


name: acromesomelic dysplasia 1, Maroteaux type

description: A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.


vulvar dystrophy

description: A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.


name: atypical hemolytic-uremic syndrome with DGKE deficiency


name: intellectual disability, autosomal dominant 4

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.


name: alanine glyoxylate aminotransferase deficiency

description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.


description: X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.


name: pyruvate dehydrogenase E1-beta deficiency

description: Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.


name: intellectual disability, autosomal recessive 7

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.


Charcot-Marie-Tooth disease type 4A

description: Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.


congenital myasthenic syndrome 4B

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.


brain stem medulloblastoma

description: A medulloblastoma that involves the brainstem.


viral sexually transmitted disease

description: Viral diseases which are potentially transmitted or propagated by sexual conduct.


name: distal myopathy with anterior tibial onset


erythema palmare hereditarium

description: A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.


MMEP syndrome

description: A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.


familial temporal lobe epilepsy 6

description: A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.


autosomal dominant myoglobinuria

description: Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.


name: chromosome 16p12.2-p11.2 deletion syndrome

description: 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


name: autosomal recessive spinocerebellar ataxia 20

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.


atrial fibrillation, familial, 10

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.


Acropectorovertebral dysplasia

description: A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).


Pectobacterium carotovorum infection

description: A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).


mesenchymal hamartoma

description: A hamartoma characterized by the presence of mesenchymal elements.


name: short-rib thoracic dysplasia 16 with or without polydactyly


name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2

description: An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.


heavy metal poisoning

description: Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.


name: autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

description: A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.


name: autosomal dominant nonsyndromic hearing loss 24

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.


name: blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

description: Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.


Histoplasma pericarditis

description: An pericarditis (disease) caused by infection with Histoplasma.


name: congenital hereditary endothelial dystrophy type I

description: Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.


trigeminal nerve neoplasm

description: Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.


exposure, dental pulp

description: The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.


name: scalp defects-postaxial polydactyly syndrome

description: Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A.


fungal infection of the toenail

description: A fungal infectious disease that involves the toenail.


name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.


Charcot-Marie-Tooth disease type 2Y

description: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.


c-P angle neurinoma

description: A schwannoma occurring in the cerebellopontine angle.


name: myopathy, lactic acidosis, and sideroblastic anemia 3


name: progressive external ophthalmoplegia with mitochondrial DNA deletions


name: inborn disorder of pyrimidine metabolism

description: ANPM


name: sporadic fetal brain disruption sequence

description: Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.


cone-rod dystrophy 13

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.


name: infertility due to extratesticular cause


name: spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits


posterior urethra cancer

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


name: intellectual developmental disorder, x-linked, syndromic 37


name: partial duplication of the short arm of chromosome 16

description: Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. 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 16p 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.


epidermal disease

description: A skin disease that involves the epidermis.


name: intellectual disability, autosomal recessive 5

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.


name: autosomal dominant cerebellar ataxia type IV


Frias syndrome

description: A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.


name: AIDS-related primary central nervous system lymphoma

description: A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.


name: COG5-congenital disorder of glycosylation

description: COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.


granulomatous prostatitis

description: An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.


sex cord-stromal benign neoplasm

description: A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.


cataract 25

description: A cataract that has material basis in variation in the region 15q21-q22.


name: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

description: Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.


acute myeloid leukemia, t(1;22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)


name: congenital disorder of glycosylation, type IAA


description: X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.


name: congenital retinal arteriovenous communication


extramedullary plasmacytoma

description: A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.


description: X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.


name: inherited focal segmental glomerulosclerosis

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


name: qualitative or quantitative defects of desmin


opioid abuse

description: A substance abuse that involves the recurring use of opioid drugs despite negative consequences.


acanthocephaliasis

description: An disease or disorder caused by infection with Acanthocephala.


hemorrhagic fever

description: An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis


name: hereditary sensory and autonomic neuropathy type 1B

description: Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).


fixed pigmented erythema

description: Round areas of red-purple reaction in the skin that result after drug exposure; these recur in the same location when the medication is readministered.


46,XY partial gonadal dysgenesis

description: 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.


Smith-McCort dysplasia 2

description: Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.


name: benign epithelial tumor of salivary glands


postaxial tetramelic oligodactyly

description: Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.


name: partial duplication of the short arm of chromosome 4


small cell osteogenic sarcoma

description: An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.


duplication of urethra

description: Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.


name: hereditary arterial and articular multiple calcification syndrome

description: Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.


name: intellectual disability, autosomal dominant 50


retinitis pigmentosa 62

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


name: peroxisome biogenesis disorder 5A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome.


name: neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies


name: combined immunodeficiency with skin granulomas


name: spinocerebellar ataxia, autosomal recessive 22

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.


nephrogenic adenoma of urinary bladder

description: A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.


lymphangiomyoma

description: A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.


ureteritis

description: An acute or chronic inflammatory process affecting the ureter.


Cowden syndrome 6

description: Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.


name: thrombophilia due to protein C deficiency, autosomal dominant


name: partial duplication of the long arm of chromosome 1


Böök syndrome

description: Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.


name: autosomal recessive primary microcephaly

description: Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.


name: congenital cataracts-facial dysmorphism-neuropathy syndrome

description: Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.


name: intellectual disability, autosomal dominant 16

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.


infant botulism

description: A botulism that occurs between 28 days to one year of life..


name: autoimmune disease of ear, nose and throat

description: An autoimmune form of otorhinolaryngologic disease.


hereditary xanthinuria

description: Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.


inherited reflex epilepsy

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


multiple personality disorder

description: A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.


carbon monoxide poisoning

description: A poisoning that is caused by exposure to carbon monoxide.


congenital myasthenic syndrome 1A

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.


Cowden syndrome 5

description: Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.


cataract 9 multiple types

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


finger agnosia

description: An agnosia characterized by an inability to distinguish, name, or recognize the fingers


name: congenital accessory mitral valve tissue

description: Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.


name: mitochondrial complex 1 deficiency, nuclear type 21


inherited thrombocytopenia

description: An instance of thrombocytopenia that is inherited.


Ritscher-Schinzel syndrome

description: Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.


description: Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.


name: partial circumpapillary choroid dystrophy


name: hidrotic ectodermal dysplasia, Christianson-Fourie type

description: Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.


Bunyaviridae infectious disease

description: Virus diseases caused by the bunyaviridae.


chromosome 2p16.1-p15 deletion syndrome

description: 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


name: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

description: Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.


name: acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

description: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).


cryptogenic late-onset epileptic spasms

description: Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.


paraneoplastic rheumatic syndrome

description: Paraneoplastic syndrome that involves the joints, bones, muscles, and/or connective tissue.


totally drug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).


isolated trigonocephaly

description: Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.


lipofibromatosis-like neural tumor

description: A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion.


Barmah forest virus disease

description: A disease caused by infection with Barmah Forest virus.


name: isolated congenitally uncorrected transposition of the great arteries


oculoauricular syndrome

description: Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).


trigonitis

description: Inflammation of the trigone of the urinary bladder.


retinitis pigmentosa 38

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


Alzheimer disease 12

description: An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.


name: capillary malformation-arteriovenous malformation 1


nemaline myopathy 3

description: An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.


name: autosomal recessive nonsyndromic hearing loss 40

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.


name: microcephaly 21, primary, autosomal recessive


vulva sarcoma

description: A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.


name: spondylocostal dysostosis-anal and genitourinary malformations syndrome

description: Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.


autosomal recessive osteopetrosis 8

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.


lateral sclerosis

description: Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.


episodic ataxia type 3

description: Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.


viral exanthem

description: A virus-induced exanthem


paranoid personality disorder

description: A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.


skull base chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells..


photosensitive trichothiodystrophy

description: A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway


startle epilepsy

description: Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.


name: proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis


microcephaly and chorioretinopathy 1

description: An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.


name: neurodevelopmental disorder with eye movement abnormalities and ataxia


name: glomerulopathy with fibronectin deposits 1


neuroaspergillosis

description: Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)


name: intellectual disability, autosomal recessive 11


prediabetes syndrome

description: A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.


chronic monocytic leukemia

description: Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.


Marburg acute multiple sclerosis

description: Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.


name: microcephaly 25, primary, autosomal recessive


name: peroxisome biogenesis disorder due to PEX13 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.


name: carnitine palmitoyl transferase II deficiency, myopathic form

description: The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.


name: partial trisomy/tetrasomy of chromosome 18

description: A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.


PLA2G6-associated neurodegeneration

description: Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.


citrullinemia type I

description: Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).


malignant atrophic papulosis

description: Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.


name: neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies


name: neurodegeneration with brain iron accumulation

description: Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.


CEDNIK syndrome

description: CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.


name: autosomal dominant medullary cystic kidney disease with or without hyperuricemia

description: A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).


immunodeficiency 49

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.


description: Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


myopathy of extraocular muscle

description: A myopathy that involves the extra-ocular muscle.


intellectual disability, X-linked 90

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.


achondrogenesis type II

description: Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.


sacral nerve plexus disorder

description: A disease that involves the sacral nerve plexus.


name: Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

description: A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.


heavy chain disease

description: Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.


name: autosomal dominant Ehlers-Danlos syndrome, vascular type

description: The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.


name: brain dopamine-serotonin vesicular transport disease

description: An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.


spinocerebellar ataxia type 42

description: An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the CACNA1G gene, encoding voltage-dependent T-type calcium channel subunit alpha-1G.


dehydrated hereditary stomatocytosis

description: Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.


Al-Gazali syndrome

description: An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.


name: congenital stationary night blindness autosomal dominant 1

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


superior vena cava angiosarcoma

description: A malignant vascular neoplasm arising from the superior vena cava.


name: developmental and epileptic encephalopathy, 31

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.


chronic polyneuropathy

description: Polyneuropathy that is persistent or long-standing in nature.


ATP1A3-associated neurological disorder

description: Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.


name: fatal multiple mitochondrial dysfunctions syndrome

description: Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.


name: hypogonadotropic hypogonadism 16 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.


ectomesenchymoma

description: An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.


name: autosomal dominant nonsyndromic hearing loss 33

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.


Balint syndrome

description: Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.


Meckel syndrome, type 4

description: Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.


name: syndromic X-linked intellectual disability 17

description: Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.


posterior amorphous corneal dystrophy

description: Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.


name: osteochondritis of tarsal/metatarsal bone

description: A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.


name: Charcot-Marie-Tooth disease dominant intermediate B

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.


spermatogenic failure 17

description: Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.


ossifying fibromyxoid tumor

description: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.


name: neurodevelopmental disorder with midbrain and hindbrain malformations


ulceroglandular tularemia

description: A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.


name: mitochondrial complex 4 deficiency, nuclear type 21


description: Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterized by circular, well-circumscribed patches of erythematous depressed skin.


Kikuchi-Fujimoto disease

description: Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.


congenital myasthenic syndrome 9

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.


retinitis pigmentosa 59

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


uvulitis

description: Inflammation of the uvula.


name: medium/large size posterior uveal melanoma

description: Ciliary body and choroid melanoma measuring between 2.5 mm and 10 mm in height and 16 mm or less in basal diameter (medium-sized) or more than 10 mm in height or more than 2 mm in height and more than 16 mm in basal diameter or more than 8 mm in height with optic nerve involvement (large-sized). (Collaborative Ocular Melanoma Study)


name: mitochondrial complex 1 deficiency, nuclear type 2


hereditary spastic paraplegia 26

description: A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.


name: developmental and epileptic encephalopathy 115


cerebral cavernous malformation 2

description: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.


sarcoma of cervix uteri

description: A sarcoma involving a uterine cervix.


antisynthetase syndrome

description: Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).


enhanced S-cone syndrome

description: An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.


name: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome


adult brain stem neoplasm

description: A brainstem neoplasm that occurs in an adult.


name: human T-lymphotropic virus 1 infectious disease

description: A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.


name: dystrophic epidermolysis bullosa pruriginosa

description: Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.


smoldering plasma cell myeloma

description: A plasma cell myeloma lacking clinical manifestations and organ impairment.


endometrial stromal nodule

description: A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.


name: intellectual disability, autosomal dominant 46


Imerslund-Grasbeck syndrome type 2

description: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).


name: macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

description: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.


chylomicron retention disease

description: Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.


nasopharyngeal disorder

description: A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.


name: chondrocalcinosis due to apatite crystal deposition


self-healing papular mucinosis

description: Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.


mature cataract

description: A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.


aplasia cutis congenita dominant

description: Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.


name: autosomal recessive congenital ichthyosis

description: Autosomal recessive form of inherited ichthyosis.


testicular pure germ cell tumor

description: A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.


skeletal ligament disorder

description: A disease or disorder that involves the skeletal ligament.


chronic congestive splenomegaly

description: Chronic form of congestive splenomegaly.


hyperostosis corticalis generalisata

description: Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.


name: developmental and epileptic encephalopathy, 32

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.


name: congenital generalized hypercontractile muscle stiffness syndrome


name: spondyloepimetaphyseal dysplasia, Handigodu type

description: A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.


renal hypertension

description: Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.


female reproductive organ cancer

description: A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.


name: microcephaly 3, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.


disorder of magnesium transport

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


name: chondrodysplasia punctata, Toriello type

description: Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.


integumentary system benign neoplasm

description: A benign neoplasm that involves the integumental system.


name: hereditary motor and sensory neuropathy with acrodystrophy

description: A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.


name: muscular dystrophy, limb-girdle, autosomal dominant

description: Autosomal dominant form of limb-girdle muscular dystrophy.


oromandibular-limb hypogenesis syndrome

description: Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).


craniosynostosis, Herrmann-Opitz type

description: Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.


larynx liposarcoma

description: A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.


name: neurodevelopmental disorder with structural brain anomalies and dysmorphic facies


name: palmoplantar keratoderma, punctate type ib


nabothian cyst

description: A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.


benign choroid plexus neoplasm

description: A neoplasm that arises from the choroid plexus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


prostatic urethral cancer

description: A male urethral cancer that involves the prostatic urethra.


description: An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.


posterolateral myocardial infarction

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


description: Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.