chondroid chordoma

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


name: Klippel-Feil syndrome 1, autosomal dominant

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

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.


name: cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis


name: acute myeloid leukemia, t(9;11)(p21.3;q23.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)


name: pyogenic bacterial infections due to MyD88 deficiency

description: Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.


rigid spine syndrome

description: Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.


Brucella suis brucellosis

description: An disease or disorder caused by infection with Brucella suis.


pseudohypoparathyroidism type 1B

description: Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.


name: isolated optic neuritis with anti-MOG antibodies


intracranial vasospasm

description: Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).


name: symptomatic form of X-linked centronuclear myopathy in female carriers


2q23.1 microdeletion syndrome

description: The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.


name: neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy


physiological polycythemia

description: Polycythemia that is not pathologic.


name: oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies


hereditary spastic paraplegia 34

description: X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.


tuberculous encephalopathy

description: A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.


paralytic poliomyelitis

description: A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.


childhood carcinoid tumor

description: A rare carcinoid tumor that occurs during childhood.


name: intellectual developmental disorder, autosomal recessive 69


name: palmoplantar keratoderma, epidermolytic, 2


CDKL5 disorder

description: A monogenic disease that has material basis in mutation in the CDKL5 gene.


pseudomembranous conjunctivitis

description: Conjunctivitis that is characterized by formation of a pseudomembrane.


name: B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)

description: A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.


name: atrial septal defect, ostium secundum type


retinitis pigmentosa 11

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.


acute myeloid leukemia, del(13q14-q21)

description: Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)


suppression amblyopia

description: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.


Bamforth-Lazarus syndrome

description: Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.


hypercholesterolemia, familial, 4

description: An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.


description: A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.


orofaciodigital syndrome X

description: Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.


name: X-linked intellectual disability, Stevenson type

description: An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.


name: mitochondrial complex III deficiency nuclear type 4

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.


name: mitochondrial complex 1 deficiency, nuclear type 34


name: congenitally uncorrected transposition of the great arteries with coarctation


retinitis pigmentosa 37

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.


name: developmental and epileptic encephalopathy, 61


name: qualitative or quantitative defects of alpha-actin


mixed testicular germ cell cancer

description: A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.


congenital muscular dystrophy 1B

description: Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.


CNGA1-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene.


aortic aneurysm, familial thoracic 9

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.


name: familial infantile bilateral striatal necrosis

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


name: intellectual disability-severe speech delay-mild dysmorphism syndrome

description: Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.


name: autosomal dominant nocturnal frontal lobe epilepsy 5

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.


nonanaplastic kidney Wilms tumor

description: Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.


Gardner syndrome

description: Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.


name: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

description: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).


lymphomatoid granulomatosis

description: Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.


BEST1-related dominant retinopathy

description: Any retinopathy caused by a heterozygous variant in the BEST1 gene.


parietal foramina 2

description: Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.


allergic contact dermatitis

description: An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.


name: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

description: A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.


Kunjin virus infectous disease

description: A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.


description: Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.


name: streptococcus pneumoniae-associated hemolytic uremic syndrome


ectasia of the left appendage

description: Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.


Adams-Oliver syndrome

description: Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.


acquired aplastic anemia

description: An instance of aplastic anemia that is acquired during the lifetime of the individual.


name: HTRA1-related autosomal dominant cerebral small vessel disease


ELOVL4-related maculopathy

description: Any maculopathy caused by a variant in the ELOVL4 gene.


autoimmune disorder of blood

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


vision disorder

description: Any impairment to the vision.


Fuhrmann syndrome

description: Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.


name: constitutional megaloblastic anemia with severe neurologic disease


name: partial deletion of the long arm of chromosome 12


mechanical ectropion

description: An ectropion with a mechanical etiology.


name: undifferentiated high grade pleomorphic sarcoma of bone

description: A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.


name: hennekam lymphangiectasia-lymphedema syndrome 3


paroxysmal nocturnal hemoglobinuria 2

description: Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.


retinitis pigmentosa 35

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.


name: brachydactyly, type E, with atrial septal defect, type 2


name: seizures, benign familial neonatal, autosomal recessive


name: inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.


name: peroxisome biogenesis disorder due to PEX6 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.


name: radioulnar synostosis with amegakaryocytic thrombocytopenia 2

description: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.


name: diffuse palmoplantar keratoderma with painful fissures


dendritic cell deficiency

description: A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.


ABetaL34V amyloidosis

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.


name: progressive dementia with neuroserpin inclusion bodies


refractive error

description: A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.


spinocerebellar ataxia type 2

description: A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.


Bardet-Biedl syndrome 17

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.


description: Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.


intellectual disability, X-linked 21

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.


name: autosomal recessive spastic paraplegia type 67

description: Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.


name: sickle cell-hemoglobin c disease syndrome

description: A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.


name: atypical progressive supranuclear palsy syndrome

description: Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).


kidney osteogenic sarcoma

description: An osteosarcoma arising from the kidney.


nodular fasciitis

description: A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.


name: metaphyseal chondrodysplasia-retinitis pigmentosa syndrome


visual pathway disorder

description: A disorder of the neural pathway from the optic nerve to the visual cortex.


BEST1-related recessive retinopathy

description: Any retinopathy caused by bi-allelic variants in the BEST1 gene.


name: anatomical narrow angle borderline glaucoma


name: autosomal dominant palmoplantar keratoderma and congenital alopecia

description: Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.


Coffin-Siris syndrome 8

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.


atrial fibrillation, familial, 13

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.


name: developmental and epileptic encephalopathy, 46

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.


name: metabolic disease involving other neurotransmitter deficiency


name: combined oxidative phosphorylation deficiency 40


congenital pulmonary valve stenosis

description: Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).


name: succinyl-CoA:3-ketoacid CoA transferase deficiency

description: Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.


familial multiple fibrofolliculoma

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


Norrie disease

description: A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.


name: hypomagnesemia, seizures, and intellectual disability


acute thyroiditis

description: Acute form of thyroiditis (disease).


cheirospondyloenchondromatosis

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


epithelioid cell melanoma

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


dystonia 24

description: Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.


mast cell sarcoma

description: A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)


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


visual snow syndrome

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


name: oocyte/zygote/embryo maturation arrest 19


name: congenital primary megaureter, nonrefluxing and unobstructed form


Bardet-Biedl syndrome 9

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.


name: spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

description: A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.


familial benign flecked retina

description: Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.


mucosulfatidosis

description: Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.


name: intellectual disability, autosomal dominant 56


chronic salpingo-oophoritis

description: Chronic form of salpingo-oophoritis.


name: benign neoplasm of peripheral nervous system


deep leiomyoma

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


mononeuritis of lower limb

description: A mononeuritis simplex that involves the hindlimb.


name: rhizomelic dysplasia, Patterson-Lowry type

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


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


adult Refsum disease

description: A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.


name: isolated anhidrosis with normal sweat glands

description: Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.


congenital herpes virus infection

description: An infectious embryofetopathy caused by infection with Herpesviridae.


low grade central osteosarcoma

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


spastic ataxia 5

description: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.


inborn carbohydrate metabolic disorder

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


name: ichthyosis, congenital, autosomal recessive 12

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.


name: diffuse palmoplantar keratoderma - acrocyanosis syndrome

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


lymph node disorder

description: Any disorder of the lymph nodes.


disorder of uterine broad ligament

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


short stature, Brussels type

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


benign neoplasm of ciliary body

description: A benign neoplasm that involves the ciliary body.


name: autosomal recessive spinocerebellar ataxia 2

description: The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.


name: autosomal recessive nonsyndromic hearing loss 66

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.


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


ABeta amyloidosis, dutch type

description: Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.


name: retinitis pigmentosa 94, variable age at onset


criss-cross heart

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


spondyloepiphyseal dysplasia tarda

description: Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.


name: intellectual disability, autosomal recessive 6

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.


name: short stature due to partial GHR deficiency

description: Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.


fried syndrome

description: A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.


HSD10 disease, neonatal type

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


familial acanthosis nigricans

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


coxsackievirus infectious disease

description: A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.


name: cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome


name: ventricular tachycardia, catecholaminergic polymorphic 6


45,X/46,XY mixed gonadal dysgenesis

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


description: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.


name: intellectual developmental disorder, autosomal recessive 81


name: familial chronic myelocytic leukemia-like syndrome

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


name: hypogonadotropic hypogonadism 7 with or without anosmia

description: A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.


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


description: Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.


name: partial duplication of the short arm of chromosome 11


atrial fibrillation, familial, 15

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.


linear lichen planus

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


name: mesenteric lymphadenitis due to Yersinia infection

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


kaposiform lymphangiomatosis

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


retinitis pigmentosa 67

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.


name: short stature-pituitary and cerebellar defects-small sella turcica syndrome

description: Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).


GM3 synthase deficiency

description: GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.


name: disorder of iron metabolism and transport


name: pigmented nodular adrenocortical disease, primary, 2

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.


name: X-linked intellectual disability with hypopituitarism

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


schizophrenia 11

description: A schizophrenia that has material basis in a mutation on chromosome 10q22.3.


name: intellectual disability, autosomal dominant 27


name: alopecia universalis onychodystrophy vitiligo

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


choroidal sclerosis

description: A neurodegenerative disease that involves the optic choroid.


intellectual disability, X-linked 46

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.


hereditary dementia

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


SELENON-related myopathy

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


paraurethral gland neoplasm

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


Niemann-Pick disease type E

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


name: ciliary dyskinesia, primary, 47, and lissencephaly


congenital myasthenic syndrome 14

description: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.


amphetamine abuse

description: Disorders related or resulting from use of amphetamines.


distal trisomy 22q

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


episodic ataxia type 4

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


ABetaA21G amyloidosis

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.


retinitis pigmentosa 34

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


platelet-type bleeding disorder 15

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.


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


microphthalmia-brain atrophy syndrome

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


Behcet syndrome arthropathy

description: Arthropathy resulting from Behcet's syndrome.


epiglottis neoplasm

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


X-linked disease

description: X-linked form of disease.


description: Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.


exostoses, multiple, type 1

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


postoperative ventricular dysfunction

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


Huntington disease-like 3

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


16p11.2p12.2 microduplication syndrome

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


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


name: refractory precursor T-lymphoblastic lymphoma/leukemia

description: T-lymphoblastic leukemia/lymphoma resistant to treatment


epiphyseal dysplasia, multiple, 2

description: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.


name: spondyloepiphyseal dysplasia with metatarsal shortening

description: A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.


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


Aicardi-Goutieres syndrome 9

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


non-specific granulomatous orchitis

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


description: 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.


syndromic microphthalmia

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


balloon cell malignant melanoma

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


name: MAN1B1-congenital disorder of glycosylation

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


fetal erythroblastosis

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


campomelia, Cumming type

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


name: developmental and epileptic encephalopathy 97


name: primary immunodeficiency due to calcium channel deficiency

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


myopia 25, autosomal dominant

description: Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.


name: spinocerebellar ataxia, autosomal recessive 33


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


maxillary neoplasm

description: Cancer or tumors of the maxilla or upper jaw.


immature teratoma

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


Alsing syndrome

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


laminopathy

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


Carney-Stratakis syndrome

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


name: autosomal dominant nonsyndromic hearing loss 11

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.


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

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


name: partial duplication of the long arm of chromosome 2

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


name: mitochondrial complex 1 deficiency, nuclear type 6


rippling muscle disease

description: A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch


xeroderma pigmentosum group B

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.


name: epidermolysis bullosa simplex 1C, localized

description: A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.


name: thyroid hormone resistance, generalized, autosomal dominant


name: ALG9-associated autosomal dominant polycystic kidney disease

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


ureteric orifice cancer

description: A malignant neoplasm involving the ureteral orifice.


Patterson-Stevenson-Fontaine syndrome

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


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


leukorrhea

description: Whitish or yellowish mucosal vaginal discharge.


scrapie

description: A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.


name: absent radius-anogenital anomalies syndrome

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


atrioventricular node disorder

description: A disease involving the atrioventricular node.


name: pseudoleprechaunism syndrome, Patterson type

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


desmoplastic nevus

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


TRPM1-related retinopathy

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


synostosis

description: A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.


testicular fibrothecoma

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


name: muscular dystrophy-white matter spongiosis syndrome


xeroderma pigmentosum variant type

description: Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.


name: hypothyroidism, congenital, nongoitrous, 9


light chain deposition disease

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


osteoarthritis, toe

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


name: Kleefstra syndrome due to 9q34 microdeletion


ischio-vertebral syndrome

description: Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.


early-onset familial hypoaldosteronism

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


name: complex cortical dysplasia with other brain malformations 4

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.


metatropic dysplasia

description: Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.


name: autosomal dominant nonsyndromic hearing loss 48

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.


name: mucopolysaccharidosis type 2, severe form

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


name: generalized dominant dystrophic epidermolysis bullosa

description: Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.


name: ALG2-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.


name: spondyloepimetaphyseal dysplasia, Irapa type

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


acute myeloid leukemia, t(8;16)

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


vitelliform macular dystrophy 5

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.


ricin poisoning

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


Batten-Turner congenital myopathy

description: A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.


name: intellectual developmental disorder, autosomal recessive 70


setariasis

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


partial sensory epilepsy

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


name: intellectual developmental disorder, autosomal dominant 64


conventional fibrosarcoma

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


Charcot-Marie-Tooth disease type 2

description: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.


autosomal recessive amelia

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


ataxia - oculomotor apraxia type 4

description: Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.


name: combined deficiency of factor V and factor VIII

description: Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.


name: intellectual disability, autosomal dominant 42

description: Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.


name: generalized epilepsy with febrile seizures plus, type 2

description: Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.


name: neurodegeneration, childhood-onset, with progressive microcephaly


name: developmental and epileptic encephalopathy 89


name: idiopathic macular telangiectasia type 3

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


name: juvenile amyotrophic lateral sclerosis with dementia

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


name: peroxisome biogenesis disorder 7A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome.


cataract 12 multiple types

description: A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.


immunodeficiency-related disorder

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


name: non-specific autoimmune supratentorial encephalitis without characteristic antibodies


acute myeloid leukemia, Trisomy 8

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


torsion dystonia 13

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


myocardial stunning

description: Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.


acute endometritis

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


name: paraneoplastic isolated brainstem encephalitis


familial melanoma

description: Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.


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

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


Charcot-Marie-Tooth disease type 5

description: Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.


disseminated peritoneal leiomyomatosis

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


neonatal brainstem dysfunction

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


muscle cancer

description: A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.


NK cell deficiency

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


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

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


name: adult-onset foveomacular vitelliform dystrophy

description: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

description: Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.


xeroderma pigmentosum group C

description: An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.


name: microcephaly with intellectual disability

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


symptomatic heart failure

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


name: benign adult familial myoclonic epilepsy

description: Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.


pili torti-onychodysplasia syndrome

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


trisomy 18p

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


benign neoplasm of scrotum

description: A benign neoplasm that involves the scrotum.


Joubert syndrome 21

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.


TUBB4A-related neurologic disorder

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


amyotrophic lateral sclerosis type 19

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.


name: inflammatory poikiloderma with hair abnormalities and acral keratoses


episodic ataxia type 7

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


name: iatrogenic or traumatic pituitary deficiency


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


EZB-MYC- diffuse large B-cell lymphoma

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


hypotrichosis 12

description: Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.


name: developmental and epileptic encephalopathy 94

description: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.


name: combined oxidative phosphorylation defect type 27

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.


nemaline myopathy 5

description: Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.


orofaciodigital syndrome IV

description: Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.


trigonocephaly-broad thumbs syndrome

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


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


chronic inducible urticaria

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


nanophthalmia

description: Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.


inborn errors of metabolism

description: An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.


Cowden syndrome 3

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


tyrosine hydroxylase deficiency

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


monosomy 9q22.3

description: Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.


dentinogenesis imperfecta type 3

description: Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).


primary ciliary dyskinesia 9

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.


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


erythema multiforme major

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


name: nutritional deficiency disease, non-human animal


spinocerebellar ataxia type 25

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


la Crosse encephalitis

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


name: intellectual disability, autosomal recessive 2

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


Whitewater Arroyo hemorrhagic fever

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


distal monosomy 9p

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


name: short-rib thoracic dysplasia 14 with polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.


cone-rod dystrophy 12

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.


Joubert syndrome 2

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.


inborn disorder of histidine metabolism

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


cataract 36

description: Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.


Gordon syndrome

description: An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.


histiocytic and dendritic cell neoplasm

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


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


AIDS phobia

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


name: ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


name: LIPE-related familial partial lipodystrophy


name: congenital hereditary facial paralysis-variable hearing loss syndrome

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


name: rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


early-onset Lafora body disease

description: Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.


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

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


thelaziasis

description: A disease caused by infection with Thelazia.


2q24 microdeletion syndrome

description: 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.


name: benign familial neonatal-infantile seizures 1


femoral cancer

description: A cancer involving a femur.


hereditary spastic paraplegia 47

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.


pelvis syndrome

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


chromosome 3q13.31 deletion syndrome

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


name: MELAS syndrome caused by mutation in MTTC

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


name: neuropathy, hereditary motor and sensory, type 6A

description: Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.


benign mesenchymoma

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


name: hypotonia with lactic acidemia and hyperammonemia

description: This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.


iris neoplasm

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


name: pseudohypoaldosteronism, type IB3, autosomal recessive


cardiovascular syphilis

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


atypical choroid plexus papilloma

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


Charcot-Marie-Tooth disease type 4B2

description: Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.


name: alveolar capillary dysplasia without misalignment of pulmonary veins

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


name: mitochondrial complex I deficiency, nuclear type


oculoosteocutaneous syndrome

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


name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

description: The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.


myotonic cataract

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


aphthous stomatitis

description: A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.


name: autosomal recessive spinocerebellar ataxia 17

description: Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.


Alexander disease type I

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


Moyamoya disease 2

description: Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.


childhood germ cell tumor

description: A germ cell tumor that occurs during childhood.


name: partial monosomy of the short arm of chromosome 20


Unverricht-Lundborg syndrome

description: Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.


cervical adenosarcoma

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


name: autosomal recessive inherited pseudoxanthoma elasticum

description: An autosomal recessive form of PXE.


Yersinia infectious disease

description: Infections with bacteria of the genus yersinia.


coagulation protein disease

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


familial cervical artery dissection

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


sympathetic nervous system disorder

description: A disease or disorder that involves the sympathetic nervous system.


name: combined oxidative phosphorylation deficiency 29

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.


acquired hypertrichosis lanuginosa

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


name: autosomal recessive proximal renal tubular acidosis

description: Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.


intersphincteric abscess

description: An abscess contained between the internal and external anal sphincters.


name: osteosclerosis-ichthyosis-premature ovarian failure syndrome

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


Ullrich congenital muscular dystrophy 2

description: Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.


cataract 28

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


name: GRID2-related autosomal dominant spinocerebellar ataxia


name: mitochondrial complex 1 deficiency, nuclear type 19


myotonia congenita, autosomal recessive

description: Autosomal recessive form of myotonia congenita.


name: neurodegeneration with brain iron accumulation 6

description: COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.


chronic bilirubin encephalopathy

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


secondary polyarteritis nodosa

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


retinitis pigmentosa 29

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


epididymis cancer

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


name: hereditary acrokeratotic poikiloderma, Weary type


uterine corpus cancer

description: A malignant neoplasm involving the body of uterus.


name: PNPLA6-related spastic paraplegia with or without ataxia

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


name: cardiac anomalies - developmental delay - facial dysmorphism syndrome


cytokine receptor deficiency

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


apperceptive agnosia

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


name: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


name: camptodactyly syndrome, Guadalajara type 3

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


name: type I complement component 8 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.


eyelid cancer

description: A cancer that involves the eyelid.


name: ciliary dyskinesia with transposition of ciliary microtubules


name: spinocerebellar ataxia, autosomal recessive 24

description: Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.


ulnar-mammary syndrome

description: Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.


chromosome 20 disorder

description: Chromosomal disorder in which chromosome 20 is affected.


name: human betaherpesvirus 5 infectious disease

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


diastematomyelia

description: A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.


name: autosomal dominant nonsyndromic hearing loss 21

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


acute leukemia of ambiguous lineage

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


name: disorder of defective peroxisome oxidative status

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