name: self-limited familial neonatal-infantile epilepsy

description: An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically.


X inactivation, familial skewed

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


name: growth hormone insensitivity syndrome with immune dysregulation


name: growth hormone insensitivity with immune dysregulation 1, autosomal recessive


name: IFAP syndrome 1, with or without BRESHECK syndrome

description: An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.


name: Rajab interstitial lung disease with brain calcifications


name: Rajab interstitial lung disease with brain calcifications 1


DICER1-related tumor predisposition

description: Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.


name: developmental delay with short stature, dysmorphic facial features, and sparse hair 2

description: Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene.


name: growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant


name: Rajab interstitial lung disease with brain calcifications 2


A20 haploinsufficiency

description: Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.


name: mitochondrial complex I deficiency, nuclear type


name: mitochondrial complex I deficiency, nuclear type 1


collagen 6-related myopathy

description: A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.


parasomnia, sleepwalking type

description: A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%).


ALS2-related motor neuron disease

description: Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene.


LAMA2-related muscular dystrophy

description: Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.


fatty acyl-CoA reductase 1 upregulation

description: A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.


name: psoriatic arthritis, susceptibility to, 1

description: A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement.


psoriatic arthritis, susceptibility to

description: An inherited susceptibility or predisposition to developing psoriatic arthritis.


long COVID-19

description: A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.


name: paroxysmal familial ventricular fibrillation

description: A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.


name: FOXC1-related anterior segment dysgenesis

description: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.


LTBP2-related ocular dysgenesis

description: Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene.


inherited cutis laxa

description: An instance of cutis laxa that is inherited.


inherited Fanconi renotubular syndrome

description: An instance of Fanconi renotubular syndrome that is inherited.


inherited hypertrophic pyloric stenosis

description: An instance of hypertrophic pyloric stenosis that is inherited.


inherited thrombophilia

description: An instance of thrombophilia that is inherited.


inherited thrombocytopenia

description: An instance of thrombocytopenia that is inherited.


glioma susceptibility

description: An inherited susceptibility or predisposition to developing glioma.


paroxysmal nocturnal hemoglobinuria

description: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.


name: migraine with or without aura, susceptibility to

description: An inherited susceptibility or predisposition to developing migraines with or without aura.


name: multiple congenital anomalies-hypotonia-seizures syndrome


name: rapidly progressive primary central nervous system vasculitis

description: A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.


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.


46,XX sex reversal 1

description: Presence of testes in an individual with a 46,XX karyotype associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein (SRY-positive).


name: familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

description: An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone.


name: tumoral calcinosis, hyperphosphatemic, familial, 1


Roberts-SC phocomelia syndrome

description: A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.


name: CACNA1A-related complex neurodevelopmental disorder

description: A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.


adenosine kinase deficiency

description: A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.


name: CTNNA1-related diffuse gastric and lobular breast cancer syndrome

description: Germline pathogenic or likely pathogenic variants in the CTNNA1 gene predispose to hereditary diffuse gastric cancer and lobular breast cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern.


name: peroxisomal single enzyme/protein defect

description: Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.


phytanoyl-CoA hydroxylase deficiency

description: Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


name: peroxisome biogenesis disorder due to PEX1 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.


name: peroxisome biogenesis disorder due to PEX2 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.


name: peroxisome biogenesis disorder due to PEX3 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.


name: peroxisome biogenesis disorder due to PEX5 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.


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: peroxisome biogenesis disorder due to PEX10 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.


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

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


name: peroxisome biogenesis disorder due to PEX12 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.


name: peroxisome biogenesis disorder due to PEX13 defect

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


name: peroxisome biogenesis disorder due to PEX14 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.


name: peroxisome biogenesis disorder due to PEX16 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.


name: peroxisome biogenesis disorder due to PEX19 defect

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


name: peroxisome biogenesis disorder due to PEX26 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.


name: peroxisome biogenesis disorder due to PEX7 defect

description: Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.


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


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


fatty acyl-CoA reductase defects

description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.


name: disorder of defective peroxisomal and mitochondrial fission

description: A disease that has its basis in the disruption of peroxisome and mitochondrial fission.


disorder of peroxisomal alpha oxidation

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


name: alanine glyoxylate aminotransferase deficiency

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


name: peroxisome biogenesis disorder due to PEX11B defect

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


Waldenstrom macroglobulinemia

description: Waldenstrom macroglobulinemia in a patient who has at least one first degree relative with either Waldenstrom macroglobulinemia or another B-cell lymphoproliferative disorder.


name: overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

description: A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.


X-linked intellectual disability

description: An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.


extrahepatic biliary atresia

description: A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.


name: respiratory syncytial virus bronchiolitis

description: Bronciolitis caused by infection with respiratory syncytial virus.


name: POLE-related polyposis and colorectal cancer syndrome

description: An autosomal dominant hereditary syndrome caused by germline pathogenic POLE variants. It is characterized by the presence of colorectal polyps and colorectal cancer.


enhanced S-cone syndrome

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


Goldmann-Favre syndrome

description: A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).


colon serrated polyposis

description: The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon.


name: early T cell progenitor acute lymphoblastic leukemia

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


Carey-Fineman-Ziter syndrome 2

description: Any Carey-Fineman-Ziter syndrome in which the cause of the disease is a mutation in the MYMX gene.


name: mitochondrial complex II deficiency, nuclear type 1

description: Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.


name: Alzheimer disease, susceptibility to, mitochondrial


Olmsted syndrome 1

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


name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1


name: PAX5-related B lymphopenia and autism spectrum disorder

description: PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.


name: hemangioma, capillary infantile, susceptibility to

description: An inherited susceptibility or predisposition to developing capillary infantile hemangioma.


LADD syndrome 1

description: Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.


ichthyosis, annular epidermolytic 1

description: Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.


disorder of bile acid aminotransferase

description: Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.


name: bile acid CoA:amino acid N-acyltransferase deficiency

description: Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.


name: disorder of defective peroxisome oxidative status

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


adult Refsum disease due to PEX7 defect

description: An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.


atactic disorder

description: A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.


hereditary ataxia

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


hereditary cerebellar ataxia

description: Cerebellar ataxia that is transmitted from parent to child.


sensory ataxia

description: Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction.


vestibular ataxia

description: Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.


focal segmental glomerulosclerosis

description: A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.


name: GYG1-related disorder of glycogen metabolism

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


isolated adrenal insufficiency

description: An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.


long QT syndrome 1

description: An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


deficiency of adenosine deaminase 2

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


name: COVID-19–associated multisystem inflammatory syndrome in adults

description: A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia).


post-COVID-19 disorder

description: A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.


non-Zellweger spectrum disorder

description: A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.


inherited pseudohypoaldosteronism

description: A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology.


name: primary focal segmental glomerulosclerosis

description: A form of focal segmental glomerulosclerosis without identifiable etiology. Primary (idiopathic) FSGS has been associated with the presence of circulating permeability factors/cytokines, which cause foot process effacement and proteinuria.


odontochondrodysplasia 1

description: A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.


name: microcephaly, epilepsy, and diabetes syndrome


primary viral infectious disease

description: The initial viral infectious disase that causes illness.


name: disease arising from reactivation of latent virus

description: An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.


nerve agent poisoning

description: A poisoning that is caused by exposure to a nerve agent or gas.


local anesthetic poisoning

description: A poisoning that is caused by exposure to a local anesthetic.


SEC61A1 deficiency

description: Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.


Friedreich ataxia

description: An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.


Friedreich ataxia 1

description: Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene.


fire ant poisoning

description: A poisoning that is caused by exposure to a fire ant bite or sting. Fire ants tend to be an aggressive insect that will sting causing very painful reactions. There are two types of fire ants which belong to the Solenopsis species.


malignant glioma

description: A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.


Bartter disease type 1

description: An autosomal recessive subtype of Bartter syndrome caused by mutation(s) in the SLC12A1 gene, encoding solute carrier family 12 member 1.The onset occurs in the antenatal period, and may be characterized by polyhydramnios, premature birth, failure to thrive and mental retardation. Clinical variability in the severity of symptoms exists and an essential feature of antenatal forms of Bartter syndrome is marked hypercalciuria.


lactose intolerance

description: Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine.  Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.


name: microcephaly with or without short stature

description: Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.


carcinoid syndrome

description: A syndrome characterized by signs and symptoms caused by advanced carcinoid tumors. They include skin flushing, diarrhea, wheezing, and tachycardia.


name: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

description: An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.


COACH syndrome

description: A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.


name: neuronopathy, distal hereditary motor, type 5


name: POLD1-related polyposis and colorectal cancer syndrome

description: An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.


episodic kinesigenic dyskinesia 1

description: An autosomal dominant condition caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by dyskinesia triggered by sudden movement. It shares features with infantile convulsions and paroxysmal choreoathetosis, familial. It is an allelic disorder.


HHV-7 infectious disease

description: A disease caused by infection with herpesvirus-7.


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 1

description: A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract.


name: herpes simplex type 1 infectious disease

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


name: herpes simplex type 2 infectious disease

description: A disease caused by infection with herpes simplex type 2.


name: lip herpes simplex type 1 infectious disorder

description: Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).


name: lip herpes simplex type 2 infectious disorder

description: Any herpes simplex type 2 infectious disease that involves the lip.


name: genital herpes simplex type 2 infectious disorder

description: Any herpes simplex type 2 infectious disease that involves the genitals.


name: genital herpes simplex type 1 infectious disorder

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


description: Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.


occupational disorder

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


name: port-wine nevi-mega cisterna magna-hydrocephalus syndrome

description: A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.


RPE65-related recessive retinopathy

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


acute hepatitis B virus infection

description: A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk.


acute hepatitis C virus infection

description: A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics.


disorder of peroxisomal transporter

description: Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


name: acute myeloid leukemia, inv(16)(p13.1;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)


name: acute myeloid leukemia, t(16;16)(p13.1;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)


name: acute myeloid leukemia, t(15;17)(q24;q21)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)


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: acute myeloid leukemia, t(10;11)(p12;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)


name: acute myeloid leukemia, t(10;11)(p11.2;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)


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.)


name: acute myeloid leukemia, t(4;11)(q21;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)


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

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


name: acute myeloid leukemia, t(6;9)(p23;q34.1)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)


name: acute myeloid leukemia, t(11;19)(q23;p13)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)


name: acute myeloid leukemia, t(11;19)(q23;p13.1)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)


name: acute myeloid leukemia, t(11;19)(q23.3;p13.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)


acute myeloid leukemia, t(v;11q23.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)


acute myeloid leukemia, Monosomy 7

description: Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)


acute myeloid leukemia, Monosomy 5

description: Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)


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.)


acute myeloid leukemia, der12p

description: Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)


acute myeloid leukemia, t(2;12)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)


acute myeloid leukemia, t(11;17)

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


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.)


acute myeloid leukemia, t(1;22)

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


name: acute myeloid leukemia, t(5;11)(q35;p15)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)


name: acute myeloid leukemia, t(7;12)(q36;p13)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)


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: acute myeloid leukemia, inv(3)(q21.3;q26.2)

description: Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


name: acute myeloid leukemia, t(3;3)(q21.3;q26.2)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


name: acute myeloid leukemia, t(3;12)(q23;p12.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)


acute myeloid leukemia, del(5q31-q32)

description: Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)


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.)


name: acute myeloid leukemia, loss of chromosome 17p

description: Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)


name: acute myeloid leukemia, MLL gene rearrangement

description: Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)


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.)


name: acute myeloid leukemia, inv(16)(p13.3;q24.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)


name: acute myeloid leukemia, t(11;15)(p15;q35)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)


name: acute myeloid leukemia, t(16;21)(q24;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)


acute myeloid leukemia, t(3;5)(q25;q34)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)


name: acute myeloid leukemia, t(16;21)(p11;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)


name: acute myeloid leukemia, monoallelic CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)


name: acute myeloid leukemia, biallelic CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)


name: acute myeloid leukemia, CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)


name: acute myeloid leukemia, FLT3 internal tandem duplication

description: Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)


name: acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)


name: acute myeloid leukemia, WT1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)


name: acute myeloid leukemia, KIT exon 17 mutation

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


name: acute myeloid leukemia, KIT exon 8 mutation

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


name: acute myeloid leukemia, KIT gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)


name: acute myeloid leukemia, GATA1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)


name: acute myeloid leukemia, RUNX1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)


name: acute myeloid leukemia, PTPN11 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)


name: acute myeloid leukemia, NRAS gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)


name: acute myeloid leukemia, KRAS gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)


progressive bulbar palsy of childhood

description: A progressive bulbar palsy of childhood that occurs during childhood.


intrahepatic cholestasis of pregnancy

description: A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.


fibrotic liver disease

description: A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.


migraine without aura

description: A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.


FNIP1-associated syndrome

description: Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.


description: A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.


chronic mountain sickness

description: A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.


cataract 2, multiple types

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


RPGR-related retinopathy

description: A retinopathy caused by a variant in the X-linked gene, RPGR.


AIPL1-related retinopathy

description: A retinopathy caused by biallelic variants in the AIPL1 gene.


glycogen storage disease IXa2

description: Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.


Asperger syndrome, susceptibility to

description: An inherited susceptibility or predisposition to developing Asperger sydrome.


GUCY2D-related dominant retinopathy

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


RP2-related retinopathy

description: A retinopathy caused by variants in the X-linked gene, RP2.


RDH5-related retinopathy

description: A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.


RLBP1-related retinopathy

description: A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.


LCA5-related retinopathy

description: A retinopathy caused by biallelic variants in the LCA5 gene.


CNGB3-related retinopathy

description: A retinopathy caused by biallelic variants in the CNGB3 gene.


ATF6-related retinopathy

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


RAB28-related retinopathy

description: A retinopathy caused by biallelic variants in the RAB28 gene.


name: FLVCR1-related retinopathy with or without ataxia

description: A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.


CAPN5-related vitreoretinopathy

description: An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.


CEP290-related ciliopathy

description: A ciliopathy caused by biallelic variants in the CEP290 gene.


RPE65-related dominant retinopathy

description: A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.


GUCY2D-related recessive retinopathy

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


GUCY2D retinopathy

description: Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


name: neonatal-onset developmental and epileptic encephalopathy

description: A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.


name: neonatal encephalopathy with non-epileptic myoclonus

description: A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.


achalasia, familial esophageal

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


MECOM-associated syndrome

description: Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.


azoospermia

description: A male infertility disease characterized by the absence of any measurable level of sperm in semen.


tobacco addiction, susceptibility to

description: An inherited susceptibility or predisposition to developing nicotine dependence.


name: short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

description: A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.


name: methylmalonic aciduria and/or homocystinuria, cblD type

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


acid sphingomyelinase deficiency

description: An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.


name: complex neurodevelopmental disorder with or without congenital anomalies

description: A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.


butterfly-shaped pigment dystrophy

description: A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.


preeclampsia/eclampsia 1

description: Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.


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.


anosmia, isolated congenital, X-linked

description: X-linked form of anosmia, isolated congenital.


reactive airway disease

description: Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.


vitamin D deficiency

description: Abnormally low level of 25-hydroxyvitamin D in the blood.


name: lissencephaly spectrum disorder with complex brainstem malformation

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


name: disorder of peptide and amine metabolism

description: An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.


mild ichthyosis vulgaris

description: An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.


severe ichthyosis vulgaris

description: An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations.


name: lipodystrophy, partial, acquired, susceptibility to

description: An inherited susceptibility or predisposition to developing acquired partial lipodystrophy.


disorder of methylamine metabolism

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


name: brain malformations with or without urinary tract defects

description: A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.


rifampicin-resistant tuberculosis

description: A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.


name: autoimmune primary adrenal insufficiency

description: Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.


active tuberculosis

description: Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.


extensively drug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.


totally drug-resistant tuberculosis

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


TSPAN12-related vitreoretinopathy

description: A vitreoretinopathy caused by variants in the TSPAN12 gene.


KCNH1 associated disorder

description: Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.


adult acne

description: Acne that occurs in an adult.


TPM4-related platelet disorder

description: A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.


name: CDH1-related diffuse gastric and lobular breast cancer syndrome

description: Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.


name: breasts and/or nipples, aplasia or hypoplasia of, 1


generalized pustular psoriasis

description: A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.


Bonnevie-Ullrich syndrome

description: A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.


autosomal recessive titinopathy

description: Autosomal recessive form of TTN-related myopathy.


autosomal dominant titinopathy

description: Autosomal dominant form of TTN-related myopathy.


autosomal recessive distal titinopathy

description: A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.


Emery-Dreifuss-like muscular dystrophy

description: A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.


name: titinopathy with congenital contractures

description: A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.


UROD-related inherited porphyria

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


name: multiple congenital anomalies due to 14q32.2 imprinting defect

description: Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including "coat-hanger ribs", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).


Mendelian neurodevelopmental disorder

description: A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.


body-stalk anomaly

description: A very rare anomaly (1 in 14,000 to 42,000 pregnancies; 1 in 7500 fetuses from 10 to 14 weeks of gestation) characterized by a complex anomaly of the anterior abdominal wall, severe kyphoscoliosis, rudimentary umbilical cord, and anatomical defects of the pelvis and lower limbs.


name: NTHL1-deficiency tumor predisposition syndrome

description: Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.


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


fungal infection of the toenail

description: A fungal infectious disease that involves the toenail.


food dermatitis

description: Dermatitis caused by an allergic reaction to ingested food.


description: An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.


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

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


name: salivary gland type cancer of the breast

description: A group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.


IFT140-related recessive ciliopathy

description: Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.


spondyloepimetaphyseal dysplasia

description: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.


sudden cardiac arrest

description: The sudden loss of all heart activity due to an irregular heart rhythm.


name: mitochondrial DNA depletion syndrome, hepatocerebral form


TRAF3 haploinsufficiency

description: Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.


familial ovarian carcinoma

description: Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.


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

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


name: complex neurodevelopmental disorder with motor features

description: A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.


PSAP-related sphingolipidosis

description: A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.


name: hereditary attention deficit-hyperactivity disorder

description: An instance of attention deficit-hyperactivity disorder that is caused by an inherited genomic modification in an individual.


name: epilepsy, idiopathic generalized, susceptibility to, 17


description: The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.


description: An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion.


SPAST-related motor disorder

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


ASAH1-related sphingolipidosis

description: A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.


description: A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.


name: breast-ovarian cancer, familial, susceptibility to


name: dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

description: An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.


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

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


Sunflower syndrome

description: A rare, photosensitive epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness.


myopathy caused by variation in CRPPA

description: Any myopathy in which the cause of the disease is a variation in the CRPPA gene.


name: Emery-Dreifuss muscular dystrophy 1, X-linked

description: Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin.


name: blepharospasm, benign essential, susceptibility to


name: hemorrhage, intracerebral, susceptibility to

description: An inherited susceptibility or predisposition to developing intracerebral hemorrhage.


name: SMARCB1-deficient kidney medullary carcinoma

description: A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.


name: hypodontia/oligodontia with orofacial cleft


name: tooth agenesis, selective, with orofacial cleft


name: hemiplegic migraine-developmental and epileptic encephalopathy spectrum

description: A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.


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

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


GATA5-related congenital heart defects

description: A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal.


clonal hematopoiesis

description: A precancerous condition characterized by cellular proliferation of hematopoietic cells where a substantial proportion of the cells are derived from a single hematopoietic stem cell lineage.


description: A precancerous condition characterized by the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% of individuals with age-related clonal hematopoiesis will progress to meet the diagnostic criteria for clonal hematopoiesis of indeterminate potential.


age-related clonal hematopoiesis

description: A precancerous condition characterized by the gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers.


hereditary neurological disease

description: A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.


hereditary neuromuscular disease

description: A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.


cardiogenetic disease

description: A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.


SERAC1-related neurological disorder

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


focal nodular hyperplasia

description: A benign tumor of the liver, characterized by hyperplastic growth of hepatocytes and a central fibrovascular scar.


orbital myositis

description: A rare form of myositis that affects only the orbital muscles.


name: SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss

description: A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.


ATTRV30M amyloidosis

description: A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.


OPTN-related open angle glaucoma

description: Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.


hereditary narcolepsy

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


IgA nephropathy, susceptibility to

description: An inherited susceptibility or predisposition to developing IgA glomerulonephritis.


name: PRRT2-associated paroxysmal movement disorder

description: A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes.


name: RBFOX2-related congenital heart disorder

description: Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene.


RNU4ATAC spectrum disorder

description: A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome.


name: ALG14-congenital disorder of glycosylation

description: Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins.


ligneous conjunctivitis

description: A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency.


HBA1-related alpha thalassemia spectrum

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


HBA2-related alpha thalassemia spectrum

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


digenic alpha thalassemia spectrum

description: An instance of alpha thalessemia spectrum that is caused by an inherited multiallelic modification in an individual.


name: HBA1; HBA2-related digenic alpha thalassemia spectrum

description: Mild microcytic anemia caused by variation in two of the four copies of the alpha hemoglobin genes, which can be in cis (e.g., large deletion of HBA1 and HBA2 genes) or in trans (e.g., HBA1 variant on one chromosome and HBA2 variant on the other chromosome).


monogenic alpha thalassemia spectrum

description: An instance of alpha thalessemia spectrum that is caused by an inherited monogenomic modification in an individual.


hereditary angioedema with normal C1Inh

description: A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.


ACD-related short telomere syndrome

description: A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.


ACD-related long telomere syndrome

description: A telomere biology disorder typically characterized by increased telomere length due to a pathogenic variant in the ACD gene that may cause familial melanoma.


name: CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy

description: Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization.


uterine ligament adenosarcoma

description: An extremely rare adenosarcoma that arises from the uterine ligament.


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


small intestinal bacterial overgrowth

description: The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity.


calcium-alkali syndrome

description: The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.


skeletal fluorosis

description: A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.


phrynoderma

description: Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks.


refeeding syndrome

description: Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).


botryomycosis

description: A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.


episodic angioedema with eosinophilia

description: A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.


name: acute fibrinous and organizing pneumonia

description: A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra.


SEC61B-related polycystic liver disease

description: Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene.


glutaminase deficiency

description: Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.


hemorrhagic fever

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


bacterial hemorrhagic fever

description: A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.


venom allergy

description: An allergic disease involving venom.


cytokine release syndrome

description: A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening.


severe hypophosphatasia

description: Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.


moderate hypophosphatasia

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


mild hypophosphatasia

description: Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood.


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.


acinar dysplasia

description: A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4.


name: acinar dysplasia caused by mutation in FGF10

description: Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.


name: acinar dysplasia caused by mutation in FGFR2

description: Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.


name: acinar dysplasia caused by mutation in TBX4

description: Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.


idiopathic inflammatory myopathy

description: Idiopathic form of inflammatory myopathy.


name: familial idiopathic inflammatory myopathy

description: An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.


hydrosalpinx

description: Fluid accumulation and dilatation of the fallopian tube due to tubal blockage.


vanishing lung syndrome

description: A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae.


congenital right-sided heart lesions

description: Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth.


restrictive pulmonary disease

description: Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.


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: 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.


shrinking lung syndrome

description: A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient.


ATP1A3-associated neurological disorder

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


obstetric disorder

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


idiopathic disease

description: A disease or disorder for which the cause is of uncertain or unknown.


chromosome 1 disorder

description: Chromosomal disorder in which chromosome 1 is affected.


chromosome 2 disorder

description: Chromosomal disorder in which chromosome 2 is affected.


chromosome 3 disorder

description: Chromosomal disorder in which chromosome 3 is affected.


chromosome 4 disorder

description: Chromosomal disorder in which chromosome 4 is affected.


chromosome 5 disorder

description: Chromosomal disorder in which chromosome 5 is affected.


chromosome 6 disorder

description: Chromosomal disorder in which chromosome 6 is affected.


chromosome 7 disorder

description: Chromosomal disorder in which chromosome 7 is affected.


chromosome 8 disorder

description: Chromosomal disorder in which chromosome 8 is affected.


chromosome 9 disorder

description: Chromosomal disorder in which chromosome 9 is affected.


chromosome 10 disorder

description: Chromosomal disorder in which chromosome 10 is affected.


chromosome 11 disorder

description: Chromosomal disorder in which chromosome 11 is affected.


chromosome 12 disorder

description: Chromosomal disorder in which chromosome 12 is affected.


chromosome 13 disorder

description: Chromosomal disorder in which chromosome 13 is affected.


chromosome 14 disorder

description: Chromosomal disorder in which chromosome 14 is affected.


chromosome 15 disorder

description: Chromosomal disorder in which chromosome 15 is affected.


chromosome 16 disorder

description: Chromosomal disorder in which chromosome 16 is affected.


chromosome 19 disorder

description: Chromosomal disorder in which chromosome 19 is affected.


chromosome 20 disorder

description: Chromosomal disorder in which chromosome 20 is affected.


chromosome 22 disorder

description: Chromosomal disorder in which chromosome 22 is affected.


chromosome X disorder

description: Chromosomal disorder in which chromosome X is affected.


chromosome Y disorder

description: Chromosomal disorder in which chromosome Y is affected.


complete trisomy 21

description: Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.


mosaic trisomy 18

description: Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.


complete trisomy 18

description: Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.


complete trisomy 13

description: Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.


mosaic trisomy 13

description: Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.


monosomy chromosome 8

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


fibrothecoma

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


testicular fibrothecoma

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


TDP-43 proteinopathy

description: Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.


name: bladder exstrophy-epispadias-cloacal extrophy complex

description: An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.


name: neonatal jaundice due to ABO incompatibility

description: Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.