name: syndrome caused by partial chromosomal duplication of the short arm of chromosome 9


TUBB2A-related tubulinopathy

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

description: A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features.


protothecosis

description: A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement.


baclofen withdrawal syndrome

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


premenopausal osteoporosis

description: Osteoporosis occurring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.


hand-foot syndrome

description: A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents.


infectious disease, non-human animal

description: Infectious disease that occurs in non-human animals.


name: bacterial infectious disease, non-human animal

description: Bacterial infectious disease that occurs in non-human animals.


liver abscess (disease)

description: An abscess that involves the liver.


intersphincteric abscess

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


name: viral infectious disease, non-human animal

description: Viral infectious disease that occurs in non-human animals.


name: microcephaly 6 with or without short stature

description: Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.


KIF1A related neurological disorder

description: KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A


name: fungal infectious disease, non-human animal

description: Fungal infectious disease that occurs in non-human animals.


neurological pain disorder

description: A nervous system disorder that has pain as a major feature.


Morton neuroma

description: Compressive neuropathy of the forefoot interdigital nerve chiefly due to compression and irritation at the plantar aspect of the transverse intermetatarsal ligament. It is not a true neuroma as the condition is degenerative rather than neoplastic. The most common location for Morton neuroma is between the 2nd and 3rd metatarsals.


name: Actinobacillus infectious disease, non-human animal

description: Actinobacillus infectious disease that occurs in non-human animals.


leukemia, acute, X-linked

description: X-linked form of acute leukemia


aneuploidy

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


trisomy

description: A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.


myopathy caused by variation in FKRP

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


myopathy caused by variation in FKTN

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


myopathy caused by variation in POMGNT1

description: Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.


myopathy caused by variation in POMGNT2

description: Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.


myopathy caused by variation in POMT1

description: Any myopathy in which the cause of the disease is a variation in the POMT1 gene.


myopathy caused by variation in POMT2

description: Any myopathy in which the cause of the disease is a variation in the POMT2 gene.


name: Rhabdoviridae infectious disease, non-human animal

description: Rhabdoviridae infectious disease that occurs in non-human animals.


glutaric acidemia IIa

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.


glutaric acidemia IIb

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.


name: congenital muscular dystrophy caused by variation in POMGNT2

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


glutaric acidemia IIc

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.


name: vitiligo-associated multiple autoimmune disease susceptibility 6


triple-positive breast carcinoma

description: A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).


hormone receptor-positive breast cancer

description: A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and is negative for expression of human epidermal growth factor receptor 2 (HER2).


name: EPHB4-associated vascular malformation spectrum

description: Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.


newborn respiratory distress syndrome

description: A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.


name: Robertsonian translocation Down syndrome

description: Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.


reciprocal translocation down syndrome

description: Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.


myopathy caused by variation in GMPPB

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


pentasomy

description: A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.


uniparental disomy

description: A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.


Usher syndrome type 1B

description: Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene


paroxysmal nonkinesigenic dyskinesia

description: Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.


paroxysmal nonkinesigenic dyskinesia 1

description: Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.


epilepsy, familial temporal lobe, 1

description: An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.


ring chromosome disorder

description: Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.


neurodevelopmental disorder

description: A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.


name: balanced Robertsonian translocation Down syndrome

description: Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred without loss of chromosomal material between the two nonhomologous chromosomes.


name: unbalanced Robertsonian translocation Down syndrome

description: Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred with loss of chromosomal material between the two nonhomologous chromosomes.


name: Reoviridae infectious disease, non-human animal

description: Reoviridae infectious disease that occurs in non-human animals.


name: nutritional deficiency disease, non-human animal


name: respiratory system disorder, non-human animal

description: Respiratory system disorder that occurs in non-human animals.


name: difference of sexual differentiation, non-human animal


name: immune system disorder, non-human animal

description: Immune system disorder that occurs in non-human animals.


name: chromosome 19q13.11 deletion syndrome, distal

description: Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.


name: skin disease caused by bacterial infection, non-human animal


heterotaxy, visceral, 5, autosomal

description: Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.


name: Anaplasmataceae infectious disease, non-human animal

description: Anaplasmataceae infectious disease that occurs in non-human animals.


vector-borne disease, non-human animal

description: Vector-borne disease that occurs in non-human animals.


proliferative vitreoretinopathy

description: Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.


name: microcephaly with lissencephaly and/or hydranencephaly

description: A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present.


name: SLC6A3-related dopamine transporter deficiency syndrome

description: A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.


name: proximal chromosome 18q deletion syndrome

description: Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.


distal chromosome 18q deletion syndrome

description: Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.


BAFopathy

description: Disorder caused by mutations in the various subunits composing the BAF complex.


ACTL6A-related BAFopathy

description: Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.


PBRM1-related BAFopathy

description: Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene.


name: SMARCC1-associated developmental dysgenesis syndrome

description: Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects.


chromosome 21 disorder

description: Chromosomal disorder in which chromosome 21 is affected.


chromosome 18 disorder

description: Chromosomal disorder in which chromosome 18 is affected.


trisomy 21

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


mosaic trisomy 21

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


translocation Down syndrome

description: Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.


mosaic translocation Down syndrome

description: Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.


partial segmental duplication

description: A chromosomal disorder consisting of the partial duplication of chromosome 21.


sarcoma, non-human animal

description: Sarcoma that occurs in non-human animals.


melanoma, non-human animal

description: Melanoma that occurs in non-human animals.


adenoma, non-human

description: Adenoma that occurs in non-human animals.


bovine neoplasm

description: A neoplasm that occurs in cattle.


bovine leukemia

description: A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood which occurs in cattle


bovine protoporphyria

description: A congenital metabolic disorder characterized by a deficiency in the enzyme ferrochelatase, which occurs in cattle.


bovine lymphosarcoma

description: Lymphosarcoma that occurs in a cow.


bovine rectal myxoma

description: A myxoma that occurs in the rectum of a cow.


canine neoplasm

description: A neoplasm that occurs in dogs.


canine osteosarcoma

description: An osteosarcoma of mesenchymal origin in a dog. It is the most common bone cancer in dogs, most often developing in the limbs of large or giant breed dogs. The morphologic and biologic behavior of canine osteosarcomas is similar to that of human osteosarcomas.


canine melanoma

description: Melanoma occurring in a dog. It is the most common malignant tumor found in the mouths of dogs and also occurs frequently on the digits. All canine melanomas are locally invasive and malignant canine melanomas show a high rate of metastasis. Melanoma in dogs has been established as a relevant model for human melanoma.


canine hemangiosarcoma

description: Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause.


canine mammary carcinoma

description: Mammary carcinoma occurring in a dog.


canine leukemia

description: An acute or chronic malignant (clonal) hematologic disorder, arising from hematopoietic stem cells in dogs. It is characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood.


canine lymphoma

description: A malignant lymphoproliferative disorder that affects dogs. It is characterized by the clonal proliferation of B- or T-lymphocytes in the lymph nodes, bone marrow, and/or extranodal sites.


canine prostate carcinoma

description: A malignant epithelial neoplasm arising from the prostate gland of a dog.


canine histiocytic sarcoma

description: A malignant neoplasm that affects dogs, characterized by the presence of malignant cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.


canine transitional cell carcinoma

description: A malignant neoplasm that affects dogs, arising from transitional epithelium.


canine sarcoma

description: A malignant mesenchymal neoplasm that affects dogs. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels.


canine mastocytoma

description: A tumor composed of mast cells that occurs in dogs.


canine glioma

description: A brain or spinal cord tumor arising from glial cells that occurs in dogs.


canine hepatocellular carcinoma

description: A malignant tumor arising from hepatocytes that occurs in dogs.


canine lung adenocarcinoma

description: A carcinoma that arises from the lung in dogs and is characterized by the presence of malignant glandular epithelial cells.


canine rhabdomyosarcoma

description: A malignant mesenchymal neoplasm arising from skeletal muscle that occurs in dogs.


canine thyroid adenocarcinoma

description: Adeonocarcinoma of the thyroid gland occurring in a dog.


canine soft tissue sarcoma

description: Soft tissue sarcoma occurring in a dog.


canine oral squamous cell carcinoma

description: Oral squamous cell carcinoma that occurs in a dog.


canine pancreatic carcinoma

description: Pancreatic carcinoma that occurs in a dog.


canine acanthomatous epulis

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


canine mammary adenoma

description: An adenoma arising from the mammary gland of a dog.


canine gastrointestinal stromal tumor

description: A gastrointestinal stromal tumor occurring in a dog.


canine granular cell tumor

description: A granular cell tumor occurring in a dog.


canine Langerhans cell histiocytosis

description: Langerhans cell histiocytosis occurring in a dog.


canine nephroblastoma

description: A nephroblastoma occurring in a dog.


name: canine thyroid gland medullary carcinoma

description: Thyroid gland medullary carcinoma occurring in a dog.


canine transmissible venereal tumor

description: A sexually transmitted tumor arising from histiocytes and occurring in dogs.


canine sebaceous gland epithelioma

description: Sebaceous epithelioma occurring in a dog.


canine oral melanoma

description: A melanoma that affects the lip and/or oral cavity of a dog.


canine cutaneous t-cell lymphoma

description: Cutaneous T-cell lymphoma occurring in a dog.


equine neoplasm

description: Neoplasm that occurs in a horse.


horse melanoma

description: Melanoma that occurs in a horse.


horse lymphoma

description: Lymphoma that occurs in a horse.


horse sarcoid

description: A fibroblastic tumor that occurs in the skin of a horse.


horse transitional cell carcinoma

description: Transitional cell carcinoma that occurs in a horse.


feline neoplasm

description: Neoplasm that occurs in a cat.


feline lymphoma

description: A lymphoma that occurs in cats. It is associated with exposure to feline leukemia virus and feline immunodeficiency virus.


feline mammary carcinoma

description: Mammary carcinoma occurring in a cat.


feline oral squamous cell carcinoma

description: Oral squamous cell carcinoma that occurs in a cat.


feline osteosarcoma

description: Osteosarcoma that occurs in a cat.


name: feline bronchioloalveolar lung carcinoma

description: Bronchioloalveolar lung carcinoma that occurs in a cat.


feline fibrosarcoma

description: Fibrosarcoma that occurs in a cat.


feline erythroleukemia

description: Erythroleukemia that occurs in a cat.


feline reticulum cell sarcoma

description: Reticulum cell sarcoma that occurs in a cat.


name: feline large granular lymphocyte lymphoma

description: A T-cell leukemia in which there is a persistent increase in the number of large granular lymphocytes in the peripheral blood and occurring in a cat.


feline melanoma

description: A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes that occurs in a cat.


feline histiocytic sarcoma

description: Histiocytic sarcoma occurring in a cat.


feline progressive histiocytosis

description: A condition occurring in cats characterized by solitary or multiple cutaneous nodules and papules, which may metastasize late in the course of the disease. Lesions consist of poorly circumscribed histiocytic infiltrates of the superficial and deep dermis, with variable extension into the subcutis.


feline synovial cell sarcoma

description: Synovial cell sarcoma occurring in a cat.


chicken neoplasm

description: A neoplasm that occurs in a chicken.


chicken bursal lymphoma

description: A malignant lymphoma that arises in the bursa of Fabricius in a chicken.


chicken fibrosarcoma

description: Fibrosarcoma that occurs in a chicken.


chicken hepatoma

description: Hepatoma that occurs in a chicken.


chicken monocytic leukemia

description: Monocytic leukemia that occurs in a chicken.


chicken lymphoma

description: Lymphoma that occurs in a chicken.


rous sarcoma

description: A fibrosarcoma, originally observed in a Plymouth Rock hen, now thought to be an expression of infection by certain viruses of the avian leukosis-sarcoma complex in the family


fish melanoma

description: Melanoma that occurs in a fish.


porcine leukemia

description: Leukemia that occurs in a pig.


porcine lymphoma

description: Lymphoma that occurs in a pig.


sheep lung adenocarcinoma

description: Adenocarcinoma arising from the lung of a sheep.


name: atypical dopamine transporter deficiency syndrome

description: A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development.


name: tick-borne infectious disease, non-human animal

description: Tick-borne infectious disease that occurs in non-human animals.


name: Bunyaviridae infectious disease, non-human animal

description: Bunyaviridae infectious disease that occurs in non-human animals.


name: pestivirus infectious disease, non-human animal

description: Pestivirus infectious disease that occurs in non-human animals.


description: Trichostrongyloidiasis that occurs in non-human animals.


ehrlichiosis, non-human animal

description: Ehrlichiosis that occurs in non-human animals.


name: Parvoviridae infectious disease, non-human animal

description: Parvoviridae infectious disease that occurs in non-human animals.


name: constitutional delay of growth and puberty

description: Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion.


name: Caliciviridae infectious disease, non-human animal

description: Caliciviridae infectious disease that occurs in non-human animals.


name: Strongylida infectious disease, non-human animal

description: Strongylida infectious disease that occurs in non-human animals.


name: enterovirus infectious disease, non-human animal

description: Enterovirus infectious disease that occurs in non-human animals.


name: Erysipelothrix infectious disease, non-human animal

description: Erysipelothrix infectious disease that occurs in non-human animals.


tuberculosis, non-human animal

description: Tuberculosis that occurs in non-human animals.


trypanosomiasis, non-human animal

description: Trypanosomiasis that occurs in non-human animals.


name: Herpesviridae infectious disease, non-human animal

description: Herpesviridae infectious disease that occurs in non-human animals.


NTRK fusion positive cancer

description: Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.


RET fusion positive cancer

description: Neoplasm associated with expression of a RET (REarranged during Transfection) fusion. RET fusion-positive tumors have been identified in a broad range of solid tumor types, including multiple endocrine neoplasia 2 (MEN2), papillary thyroid carcinoma (PTC), non-small cell lung cancer (NSCLC), invasive breast cancers, and pancreatic ductal adenocarcinomas in addition to colorectal adenocarcinoma, melanoma, small cell lung cancer, neuroblastoma, and small intestine neuroendocrine tumors.


neonatal sepsis

description: Bacterial infection in the bloodstream of newborn infants younger than 28 days old.


group B streptococcal infection

description: A disease caused by infection with Group B Streptococcus.


neoplastic meningitis

description: Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia.


disease related to transplantation

description: Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation.


name: disease related to solid organ transplantation

description: Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ transplant, or as a consequence of the transplantation.


name: disease related to hematopoietic stem cell transplant

description: Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation.


hereditary skeletal muscle disorder

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


PDE6A-related retinopathy

description: Any retinopathy caused by variants in the PDE6A gene.


hereditary gallbladder disorder

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


food allergy

description: Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.


ELOVL4-related maculopathy

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


description: Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene.


MAK-related retinopathy

description: Any retinopathy caused by variants in the MAK gene.


GPR143-related foveal hypoplasia

description: Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene.


description: Any exudative vitreoretinopathy caused by variants in the TSPAN12 gene.


KIZ-related retinopathy

description: Any retinopathy caused by variants in the KIZ gene.


TOPORS-related retinopathy

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


PRPF8-related retinopathy

description: Any retinopathy caused by a variant in the PRPF8 gene.


RD3-related retinopathy

description: Any retinopathy caused by variants in the RD3 gene.


BBS9-related ciliopathy

description: Any ciliopathy caused by variants in the BBS9 gene.


BBS10-related ciliopathy

description: Any ciliopathy caused by variants in the BBS10 gene.


BEST1-related dominant retinopathy

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


BEST1-related recessive retinopathy

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


BEST1-related vitreoretinochoroidopathy

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


IMPG2-related recessive retinopathy

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


IMPG2-related dominant retinopathy

description: Any retinopathy caused by a heterozygous variant in the IMPG2 gene.


CACNA1F-related retinopathy

description: Any retinopathy caused by a variant in the CACNA1F gene.


CACNA2D4-related retinopathy

description: Any retinopathy caused by variants in the CACNA2D4 gene.


name: epidermolytic hyperkeratosis 2B, autosomal recessive


name: ocular dysgenesis caused by defects in PAX6 regulation

description: Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.


RAB18 deficiency

description: Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.


name: epidermolytic hyperkeratosis 2A, autosomal dominant


name: mitochondrial complex IV deficiency, nuclear type 1


parneoplastic endocrine syndrome

description: Paraneoplastic syndrome that involves the endocrine system.


paraneoplastic hematological syndrome

description: Paraneoplastic syndrome that involves the hematopoietic system.


description: Paraneoplastic syndrome that involves the digestive system.


paraneoplastic renal syndrome

description: Paraneoplastic syndrome that involves the renal system.


TREX1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.


name: RNASEH2B-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


name: RNASEH2C-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


name: RNASEH2A-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


SAMHD1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.


ADAR-related type 1 interferonopathy

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


IFIH1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.


RNU7-1-related type 1 interferonopathy

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


type 1 interferonopathy

description: Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response.


paraneoplastic rheumatic syndrome

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


paraneoplastic cutaneous syndrome

description: Paraneoplastic syndrome that involves the integumental system.


BARD1-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the BARD1 gene. Germline pathogenic or likely pathogenic variants in the BARD1 gene confer a moderate risk of breast cancer, inherited in an autosomal dominant pattern, increasingly documented to be specific to triple negative breast cancer in women. BARD1 cancer susceptibility syndrome is also associated with other tumour types including neuroblastoma.


BRCA1-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the BRCA1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described.


BRCA2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described.


ATM-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer.


CHEK2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.


PALB2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the PALB2 gene. Pathogenic germline variation in PALB2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, and pancreatic cancer.


RAD51C-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the RAD51C gene. Pathogenic germline variation in RAD51C confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.


RAD51D-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the RAD51D gene. Pathogenic germline variation in RAD51D confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.


name: delayed sleep phase syndrome, susceptibility to

description: An inherited susceptibility or predisposition to developing delayed sleep phase syndrome.


Teebi hypertelorism syndrome 1

description: A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes.


name: central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

description: A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.


name: leukoencephalopathy, diffuse hereditary, with spheroids 1

description: A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.


name: dyskinesia with orofacial involvement, autosomal dominant

description: A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.


interstitial lung disease 2

description: A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.


name: gastrointestinal defects and immunodeficiency syndrome 1

description: A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.


name: central hypoventilation syndrome, congenital


name: MELAS syndrome caused by mutation in MTTL1

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.


name: MELAS syndrome caused by mutation in MTTQ

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


name: MELAS syndrome caused by mutation in MTTH

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


name: MELAS syndrome caused by mutation in MTTK

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


name: MELAS syndrome caused by mutation in MTTC

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


name: MELAS syndrome caused by mutation in MTTS1

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.


name: MELAS syndrome caused by mutation in MTND1

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.


name: MELAS syndrome caused by mutation in MTND5

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.


name: MELAS syndrome caused by mutation in MTND6

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene.


name: MELAS syndrome caused by mutation in MTTS2

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.


restrictive dermopathy 1

description: A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.


Stüve-Wiedemann syndrome 1

description: A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.


name: congenital disorder of deglycosylation 1

description: A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.


name: autoinflammatory syndrome, familial, Behcet-like 1


thyroid hormone metabolism, abnormal 1

description: A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.


name: macrothrombocytopenia, isolated, 1, autosomal dominant

description: Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.


name: primordial dwarfism and slender bone disorder

description: A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.


name: osteogenesis imperfecta and a reduction of bone mineral density.

description: A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.


polydactyly-syndactyly-triphalangism

description: Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two.


severe spondylodysplastic dysplasia

description: An instance of spondylodysplastic dysplasia that has a high degree of severity.


name: lysosomal storage disease with skeletal involvement


abnormal mineralization disorder

description: A skeletal dysplasia where osteoid becomes calcified.


SNRNP200-related dominant retinopathy

description: A retinopathy caused by heterozygous variants in the SNRNP200 gene.


RDH12-related recessive retinopathy

description: A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.


RDH12-related dominant retinopathy

description: A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.


NMNAT1-related retinopathy

description: A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.


CNGA3-related retinopathy

description: A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.


COACH syndrome 1

description: Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.


immunodeficiency 105

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


catatonia

description: A psychiatric disorder featuring stupor, posturing, and echophenomena.


disruptive behavior disorder

description: A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.


persistent tachypnoe of infancy

description: A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%.


name: persistent tachypnoe of infancy, aberrant

description: Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%).


persistent tachypnoe of infancy, usual

description: Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%).


non-atopic asthma

description: A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma.


necrotizing vasculitis

description: A type of vasculitis that is comprised of vasculitides that present with necrosis.


follicular bronchiolits

description: A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.


cutaneous botryomycosis

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


visceral botryomycosis

description: A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described.


postinfectious bronchiolitis obliterans

description: An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood.


Mac-Leod-Swyer-James-Syndrome

description: A rare lung condition characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality.


cellular interstitial pneumonitis

description: An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring.


name: bronchiolocentric pattern of interstitial pneumonia

description: An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.


Lane Hamilton syndrome

description: A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15.


name: disseminated visceral giant cell angiitis

description: A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.


dystrophic pulmonary ossification

description: A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform.


pulmonary amyloidosis

description: A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.


name: combined immunodeficiency due to POLE2 deficiency

description: Any combined immunodeficiency due to a deficiency in the POLE2 gene.


autoinflammatory disease, X-linked

description: An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.


name: autoinflammatory syndrome with immunodeficiency

description: An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.


name: hyper-IgE recurrent infection syndrome 4A, autosomal dominant

description: An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.


name: autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency

description: An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy.


pulmonary hypoplasia

description: A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements.


name: primary immunodeficiency due to calcium channel deficiency

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


name: congenital emphysematous lung disease due to Filamin A loss-of-function variant

description: Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.


name: non-severe combined immunodeficiency due to COPG1 deficiency

description: Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.


name: early-onset pulmonary and cutaneous vasculitis

description: A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.


name: multisystem autoimmune disease due to IKAROS gain of function

description: An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.


HELIOS deficiency

description: A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.


ITPKB deficiency

description: Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.


MAN2B2 deficiency

description: Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene.


name: chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency

description: An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).


name: cytomegalovirus pneumonia due to NOS2 deficiency

description: Cytomegalovirus pneumonia due to variant in the NOS2 gene.


name: autoimmune pulmonary disease due to PD-1 deficiency

description: An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.


name: non-severe combined immunodeficiency due to polymerase delta deficiency

description: Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.


name: agammaglobulinemia, autosomal recessive, due to BOB1 deficiency

description: Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.


name: hemophagocytic lymphohistiocytosis due to RhoG deficiency

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.


name: autoinflammatory syndrome due to TBK1 deficiency

description: Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.


name: immunodeficiency, common variable, due to APRIL deficiency

description: Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.


name: disorder of galactose and fructose metabolism

description: An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.


name: urea cycle disorder or inherited hyperammonemia

description: A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).


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

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


name: inborn disorder of glycine and serine metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.


name: inborn disorder of ornithine, proline and hydroxyproline metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.


name: inborn disorder of lysine, hydroxylysine, and tryptophan metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.


name: inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.


disorder of polyamine metabolism

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


name: encephalitis, acute, infection-induced, susceptibility to

description: An inherited susceptibility or predisposition to developing encephalitis, acute, infection-induced.


cardiogenic shock

description: A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.


black widow spider envenomation

description: Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species).


platinum-induced ototoxicity

description: Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin.


periprosthetic joint infection

description: A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties.


CPOX-related hereditary coproporphyria

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


name: OPA1-related optic atrophy with or without extraocular features

description: Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.


TEK-related primary glaucoma

description: Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.


PAX6-related ocular dysgenesis

description: Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene.


name: immunodeficiency 83, susceptibility to viral infections

description: An inherited susceptibility or predisposition to developing viral infections.


name: malignant hyperthermia, susceptibility to

description: An inherited susceptibility or predisposition to developing malignant hyperthermia.


name: calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia


name: epidermolysis bullosa dystrophica with subcorneal cleavage


name: fibrosis of extraocular muscles, congenital, 3b


name: multicentric Castleman disease, susceptibility to


name: pelvic organ prolapse, susceptibility to, 1


name: amyotrophic lateral sclerosis, susceptibility to, 13


name: Graves disease, susceptibility to, X-linked 2


name: autoimmune thyroid disease, susceptibility to, 5


name: atrioventricular septal defect, susceptibility to, 1


name: epilepsy, juvenile myoclonic, susceptibility to, 6


name: autoimmune disease, susceptibility to, 5


name: epilepsy, idiopathic generalized, susceptibility to, 6


name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2


name: peroxisome biogenesis disorder, complementation group 2


name: myopathy, congenital, with excess of muscle spindles


name: black locks with albinism and deafness syndrome


name: Friedreich ataxia with retained reflexes


name: neuropathy, hereditary sensory and autonomic, type IId


myoclonic epilepsy of Lafora 2

description: Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene.


name: orotic aciduria without megaloblastic anemia


name: vas deferens, congenital unilateral aplasia of


name: wooly hair, autosomal recessive 1, with or without hypotrichosis


name: xeroderma pigmentosum, type F/Cockayne syndrome


name: xeroderma pigmentosum, type G/Cockayne syndrome


name: Emery-Dreifuss muscular dystrophy 6, X-linked


name: congenital heart defects, multiple types, 1, X-linked


name: membranous obstruction of inferior vena cava


name: microphthalmia, isolated, with coloboma 8


name: retinitis pigmentosa 94, variable age at onset


name: seasonal affective disorder, susceptibility to


name: congenital myopathy 4A, autosomal dominant


name: cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction


name: congenital disorder of glycosylation, type Ibb


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


name: hyperpigmentation, progressive cribriform and zosteriform


name: peroxisome biogenesis disorder, complementation group 3


name: peroxisome biogenesis disorder, complementation group K


name: dyskeratosis congenita, autosomal dominant 4


cardiomyopathy, dilated, 1MM

description: A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.


name: dyskeratosis congenita, autosomal recessive 7


carbon monoxide poisoning

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


name: ventricular tachycardia, catecholaminergic polymorphic 6


name: developmental delay, epilepsy, and neonatal diabetes 1


name: developmental delay, epilepsy, and neonatal diabetes 2


name: ACTH-independent adrenal Cushing syndrome, somatic


name: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete


name: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial


name: 46,XX true hermaphroditism, SRY-positive


cesium poisoning

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


iron poisoning

description: A heavy metal poisoning that is caused by exposure to iron. Iron toxicity is classified as corrosive or cellular. Ingested iron can cause direct caustic injury to the gastrointestinal mucosa, resulting in nausea, vomiting, abdominal pain, and diarrhea.


organophosphate poisoning

description: A poisoning that is caused by exposure to organophosphate.


sulfur mustard poisoning

description: A poisoning that is caused by exposure to sulfur mustard. The effects of mustard poisoning may be local, systemic, or both, depending on environmental conditions, exposed organs, and the extent and duration of exposure. The toxic effects of mustard include inhibition of mitosis, NAD depletion, decreased tissue respiration and finally cell death.


cardiac glycoside intoxication

description: A poisoning that is caused by exposure to cardiac glycoside.


monochloroacetic acid poisoning

description: A poisoning that is caused by exposure to monochloroacetic acid.


chemotherapy-induced toxicity

description: Toxicities following administration of chemotherapeutic agents


EYS-related retinopathy

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


GNAT2-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene.


IDH3B-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.


MERTK-related retinopathy

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


PRPF31-related retinopathy

description: An inherited retinopathy caused by variants in the PRPF31 gene.


GPR179-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GPR179 gene.


GRM6-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GRM6 gene.


ADAM9-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the ADAM9 gene.


RP1-related recessive retinopathy

description: An autosomal dominant retinopathy caused by variants in the RP1 gene.


RP1-related dominant retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the RP1 gene.


CERKL-related retinopathy

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


TRPM1-related retinopathy

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


CNGB1-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene.


PCARE-related retinopathy

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


CNGA1-related retinopathy

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


ABCA4-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.


NYX-related retinopathy

description: An X-linked retinopathy caused by variants in the NYX gene.


name: ventricular fibrillation during myocardial infarction, susceptibility to


name: UV-induced skin damage, susceptibility to


name: asthma, aspirin-induced, susceptibility to


name: breast cancer, familial, susceptibility to, 1


name: breast cancer, familial, susceptibility to, 2


name: breast cancer, familial, susceptibility to, 3


name: cardiomyopathy, familial hypertrophic, 4, susceptibility to


name: cirrhosis, noncryptogenic, susceptibility to


name: colorectal cancer, susceptibility to, on chromosome 15


name: coronary artery disease, severe, susceptibility to


name: dengue hemorrhagic fever, susceptibility to


name: dengue shock syndrome, susceptibility to


name: efavirenz central nervous system toxicity, susceptibility to


name: ovarian cancer, familial, susceptibility to, 1


name: ovarian cancer, familial, susceptibility to, 2


name: ovarian cancer, familial, susceptibility to, 3


name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

description: Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.


Carey-Fineman-Ziter syndrome 1

description: A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.


name: developmental delay with short stature, dysmorphic facial features, and sparse hair 1

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 DPH1 gene.


name: syndromic complex neurodevelopmental disorder

description: A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.


HAND1 related congenital heart defect

description: A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle.


name: NKX2.5-related congenital, conduction and myopathic heart disease

description: A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.


MYH-6 related congenital heart defects

description: A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome.


description: A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.


Birt-Hogg-Dube syndrome 1

description: Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.


name: bleeding diathesis due to thromboxane synthesis deficiency

description: A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).


name: bleeding disorder, platelet-type, 13, susceptibility to


name: leukoencephalopathy with vanishing white matter

description: A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes "foamy'' aspect.


name: microcephaly, short stature, and impaired glucose metabolism


name: congenital amegakaryocytic thrombocytopenia 1

description: A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.


juvenile absence epilepsy

description: A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.


Birt-Hogg-Dube syndrome 2

description: Birt-Hogg-Dube syndrome caused by the mutations in PRDM10.


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


description: Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.


name: NR2F2 related multiple congenital anomalies/dysmorphic syndrome

description: A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.


noxacusis

description: Noxacusis/pain hyperacusis is characterized by individuals who experience otalgia or pain (e.g., dull ache, burning, sharp, stabbing pain and throbbing pain) in response to everyday sounds. This differs clinically from those whose primary symptom is the perception of everyday sounds as excessively loud (termed loudness hyperacusis).


ASAH1-related disorders

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


COL4A1-related disorder

description: The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).


FHL1-related myopathy

description: A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy.


KIF7-related ciliopathy

description: A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12.


description: A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.


CTSC-related disorder

description: Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.


disorder of GNAS inactivation

description: Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).


name: dyskeratosis congenita and related telomere biology disorder

description: A dyskeratosis congenita caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.


SCN4A-related channelopathy

description: Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis.


ACD-related telomere biology disorder

description: A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.


TUBB4A-related neurologic disorder

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


name: CYP1B1-related glaucoma with or without anterior segment dysgenesis

description: Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.


name: SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder

description: An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.


name: NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability

description: A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.


HAND2 related congenital heart defect

description: A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.


name: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth

description: A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features.


trigeminal trophic syndrome

description: A syndrome characterized by an uncommon and relatively unknown cause of facial ulceration that occurs after damage to the trigeminal nerve. It characteristically involves non-healing facial ulceration(s) with accompanying anesthesia, paresthesia, and dysesthesia along the distribution of a trigeminal dermatome.


self-limited neonatal seizures

description: A neonatal/infantile epilepsy syndrome where seizures start in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. This is distinguished from familial neonatal epilepsy on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures.


non-verbal learning disability

description: A neurodevelopmental disorder characterized by core deficits in visual-spatial processing and a significant discrepancy between verbal and nonverbal intelligence (where verbal intelligence is higher).


oral fibroma

description: A non-metastasizing oral neoplasm arising from fibrous tissue characterized by the presence of spindle-shaped fibroblasts.


SF3B4-related acrofacial dysostosis

description: A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs.


PRKAG2-related cardiomyopathy

description: A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells.


AKT3-related overgrowth spectrum

description: Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene.


metabolic bone disorder

description: A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease.


choroidal neovascularization

description: An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss.


name: congenital neuronal ceroid lipofuscinosis

description: Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.


name: anterior segment developmental abnormality with extraocular manifestations


name: twin-reversed arterial perfusion sequence


name: selective intrauterine growth restriction


name: classic eosinophilic pustular folliculitis


name: congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome


name: F12-associated cold autoinflammatory syndrome


name: chronic neurovisceral acid sphingomyelinase deficiency


name: hereditary persistence of fetal hemoglobin-intellectual disability syndrome


name: inherited hematologic cancer-predisposing syndrome


name: neonatal-onset severe multisystemic autoinflammatory disease with increased IL18


name: immune deficiency due to impaired neutrophil phagocytosis and migration


name: familial hyperinflammatory lymphoproliferative immunodeficiency


name: non-syndromic non-specific multisutural craniosynostosis


name: non-syndromic unicoronal and sagittal craniosynostosis


name: non-syndromic metopic and sagittal craniosynostosis


name: non-syndromic bicoronal and metopic craniosynostosis


name: non-syndromic bicoronal and sagittal craniosynostosis


name: primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome


name: EGF-related primary hypomagnesemia with intellectual disability


name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation


absence epilepsy

description: Epilepsy characterized by very brief episodes of sudden cessation of activity, usually associated with eye blinking. There is no loss of the muscle tone.


name: X-linked severe syndromic thoracic aortic aneurysm and dissection


name: SBDS-related severe neonatal spondylometaphyseal dysplasia


autoimmune limbic encephalitis

description: A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.


oligoasthenoteratozoospermia

description: A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.


spitzoid melanoma

description: A junctional or compound melanocytic neoplasm not fulfilling the histopathologic criteria of melanoma but with one of the following features: asymmetry, predominance of single melanocytes over nests in lesions 4 mm or larger, ulceration, large dermal sheets of melanocytes, lack of maturation in dermis, deep dermal mitotic figures, extensive involvement of subcutis, and nuclear pleomorphism. (Mod Pathol 2006;19: S21)


name: non-specific autoimmune supratentorial encephalitis with characteristic antibodies


name: non-specific autoimmune supratentorial encephalitis without characteristic antibodies


name: paraneoplastic isolated brainstem encephalitis


name: non-specific autoimmune brainstem encephalitis with characteristic antibodies


name: non-specific autoimmune brainstem encephalitis without characteristic antibodies


name: non-specific autoimmune cerebellar ataxia with characteristic antibodies


name: non-specific autoimmune cerebellar ataxia without characteristic antibodies


name: melanoma in congenital melanocytic nevus

description: A melanoma of the skin arising in a congenital melanocytic nevus.


name: breast implant-associated anaplastic large cell lymphoma


name: early-onset obesity-hyperphagia-severe developmental delay syndrome


name: solid adenocarcinoma with mucin production


name: autonomic nervous system benign neoplasm


malignant adenoma

description: A cell type cancer that is composed of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.


name: testicular sex cord-stromal benign neoplasm

description: A sex cord-stromal benign neoplasm that arises from the testis.


name: epithelioid inflammatory myofibroblastic sarcoma


epididymis disease

description: A male reproductive system disease that is located in the epididymis.


gastroesophageal cancer

description: A gastrointestinal system cancer that is located in the proximal esophagus and the distal stomach.


germ cell benign neoplasm

description: A benign neoplasm that derives from germ cells.


nephroma

description: A kidney benign neoplasm that is located in the kidney cortex.


kidney cortex disease

description: A kidney disease that is located in the kidney cortex.


lymph node carcinoma

description: A lymph node cancer that has material basis in abnormally proliferating cells derives from epithelial cells.


auditory system benign neoplasm

description: A sensory system benign neoplasm that is located in the auditory system.


name: B-lymphoblastic leukemia/lymphoma MLL rearranged

description: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.


name: B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1

description: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.


name: B-lymphoblastic leukemia/lymphoma with IL3-IGH

description: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).


description: A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.


name: B-lymphoblastic leukemia/lymphoma with IAMP21

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


spinal muscular atrophy type 0

description: A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.


medulloblastoma WNT activated

description: A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.


medulloblastoma SHH activated

description: A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.


medulloblastoma non-WNT/non-SHH

description: A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.


NK cell deficiency

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


T cell and NK cell immunodeficiency

description: A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.


Libman-Sacks endocarditis

description: An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.


autoimmune cholangitis

description: An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.


chronic urticaria

description: An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.


erythema nodosum

description: A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.


mucinous pancreas adenocarcinoma

description: A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin.


name: childhood acute megakaryoblastic leukemia

description: An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.


name: core binding factor acute myeloid leukemia

description: An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.


name: myeloid leukemia associated with down syndrome

description: An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene.


salivary gland mucinous adenocarcinoma

description: A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.


mammary analog secretory carcinoma

description: A salivary gland carcinoma that has material basis in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.


chronic asthma

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


acute asthma

description: An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.


extrinsic asthma

description: A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.


environmental induced asthma

description: An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gasses or particulate matter.


exercise-induced bronchoconstriction

description: An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.


aspirin-induced respiratory disease

description: An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.


name: human betaherpesvirus 5 infectious disease

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


subjective cognitive decline

description: A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.


acquired laryngomalacia

description: A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.


pemphigoid

description: An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.


intracranial meningioma

description: A meningioma that arises within the cranial cavity.


supratentorial meningioma

description: A meningioma that affects the supratentorial brain.


latent autoimmune diabetes in adults

description: A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.


description: A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.


IDH-mutant anaplastic astrocytoma

description: An anaplastic astrocytoma carrying IDH mutations.


IDH-wildtype anaplastic astrocytoma

description: An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.


IDH-wildtype glioblastoma

description: A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.