spinal ependymoma, MYCN-amplified

description: A spinal cord ependymoma that is characterized by MYCN amplification.


posterior fossa ependymoma

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

description: A high grade ependymoma that is located within the posterior fossa.


supratentorial ependymoma

description: A high grade ependymoma that is located within the supratentorial brain.


lung pleomorphic carcinoma

description: A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located in the lung.


oral rhabdomyosarcoma

description: A rhabdomyosarcoma located in the oral cavity.


name: bladder sarcomatoid transitional cell carcinoma

description: A sarcomatoid transitional cell carcinoma that is located in the bladder.


bladder small cell carcinoma

description: A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells.


astroblastoma, MN1-altered

description: An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.


castration-resistant prostate carcinoma

description: A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.


immunoglobulin heavy-and-light chain

description: An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.


nonobstructive coronary artery disease

description: A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.


name: childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered

description: A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.


rhabdomyolysis-myalgia syndrome

description: A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma.


autoimmune epilepsy

description: An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.


tuberculous encephalopathy

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


name: diffuse large B-cell lymphoma activated B-cell type

description: A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.


name: diffuse large B-cell lymphoma germinal center B-cell type

description: A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.


acute necrotizing pancreatitis

description: An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.


acute hemorrhagic pancreatitis

description: An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage.


name: high-grade B-cell lymphoma double-hit/triple-hit

description: A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.


name: benign peritoneal solitary fibrous tumor

description: A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.


name: mixed phenotype acute leukemia with BCR-ABL1

description: An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.


name: mixed phenotype acute leukemia with MLL rearranged

description: An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.


name: mixed phenotype acute leukemia, B/myeloid

description: An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.


name: mixed phenotype acute leukemia,T/myeloid

description: An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.


name: primary cutaneous gamma-delta t-cell lymphoma

description: A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.


name: neurobehavioral disorder with prenatal alcohol exposure

description: A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction.


BN2 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.


EZB diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.


MCD diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.


N1 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features.


ST2 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.


A53 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.


name: acute myeloid leukemia, t(8;21)(q22; q22.1)

description: An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.


name: acute myeloid leukemia, t(1;22)(p13;q13)

description: An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.


name: inclusion body myopathy and brain white matter abnormalities


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


injection anthrax

description: An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.


dendritic cell deficiency

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


KINSSHIP syndrome

description: A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.


malignant olfactory nerve neoplasm

description: A primary or metastatic malignant neoplasm affecting the olfactory nerve.


Bartholin's gland disease

description: A female reproductive system disease that is located in Bartholin's gland.


dropped head syndrome

description: A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.


pituitary blastoma

description: A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.


cauda equina neuroendocrine tumor

description: A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.


EWSR1-negative small round cell tumor

description: A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.


name: developmental delay, hypotrophy, and dysmorphic features without moebius syndrome

description: A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has material basis in homozygous ultra-rare REV3L variant (T2753R).


name: diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

description: A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.


infant-type hemispheric glioma

description: A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.


myxoid glioneuronal tumor

description: A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.


traumatic brain injury

description: A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.


name: diffuse leptomeningeal glioneuronal tumor

description: A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.


name: multinodular and vacuolating neuronal tumor

description: A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.


name: high-grade astrocytoma with piloid features

description: An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.


name: polymorphous low grade neuroepithelial tumor of the young

description: A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.


spindle cell oncocytoma

description: A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.


name: central nervous system tumor with bcor internal tandem duplication

description: A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.


name: primary intracranial sarcoma, DICER1-mutant

description: A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.


breast implant illness

description: A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. This syndrome may be related to breast implants


name: mesomelic dysplasia-digital anomalies-intellectual disability syndrome


name: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome


name: SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome


name: intellectual disability-early-onset cataract-microcephaly syndrome


name: preaxial digit brachydactyly-webbed fingers


name: Schistosoma mansoni infection, susceptibility/resistance to


name: intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies


name: thrombophilia, X-linked, due to factor 8 defect


name: neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked


name: intellectual developmental disorder, X-linked 110


name: neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia


name: blepharophimosis-impaired intellectual development syndrome


name: neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia


Radio-Tartaglia syndrome

description: A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.


name: growth restriction, hypoplastic kidneys, alopecia, and distinctive facies


name: neurodevelopmental disorder with seizures and gingival overgrowth


name: neurodevelopmental disorder with cerebellar atrophy and motor dysfunction


name: chromosome 1p36 deletion syndrome, proximal


name: ataxia, intention tremor, and hypotonia syndrome, childhood-onset


name: deafness, cataract, impaired intellectual development, and polyneuropathy


name: mitochondrial complex IV deficiency, nuclear type 22


name: onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome


name: neurodevelopmental disorder with infantile epileptic spasms


name: neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities


name: visceral leiomyopathy, African degenerative


name: myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy


name: retinal dystrophy and microvillus inclusion disease


name: hemolytic disease of fetus and newborn, RH-induced


name: Usmani-Riazuddin syndrome, autosomal dominant


name: neurodevelopmental disorder with motor and speech delay and behavioral abnormalities


VISS syndrome

description: An autosomal recessive condition caused by mutation(s) in the IPO8 gene, encoding importin-8. It is a generalized connective tissue disorder resulting in skin laxity, vascular aneurysms, immune dysregulation, and skeletal anomalies.


name: developmental delay, impaired speech, and behavioral abnormalities


name: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum


name: Parkinson disease 24, autosomal dominant, susceptibility to


name: neurodevelopmental disorder with hypotonia and dysmorphic facies


name: neurodevelopmental disorder with hypotonia and brain abnormalities


name: neurodevelopmental disorder with seizures and brain abnormalities


name: muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome


name: neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities


name: biliary, renal, neurologic, and skeletal syndrome


name: Usmani-Riazuddin syndrome, autosomal recessive


name: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies


name: short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies


name: developmental delay with or without intellectual impairment or behavioral abnormalities


name: cerebellar ataxia, brain abnormalities, and cardiac conduction defects


name: neurodevelopmental disorder with impaired language and ataxia and with or without seizures


name: developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities


name: fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies


name: neurodevelopmental disorder with hearing loss and spasticity


name: neurodevelopmental disorder with hypotonia and gross motor and speech delay


name: neurodevelopmental disorder with hyperkinetic movements and dyskinesia


name: neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus


name: congenital heart defects, multiple types, 8, with or without heterotaxy


name: dystonia, early-onset, and/or spastic paraplegia


name: neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis


name: developmental delay with variable neurologic and brain abnormalities


name: congenital disorder of glycosylation, type Iw, autosomal dominant


name: intellectual disability and myopathy syndrome


name: neurodevelopmental disorder with or without variable movement or behavioral abnormalities


name: combined oxidative phosphorylation deficiency 55


name: cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism


name: macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin


name: neurodevelopmental disorder with central hypotonia and dysmorphic facies


name: epidermolysis bullosa, junctional 6, with pyloric atresia


name: agammaglobulinemia 8b, autosomal recessive


name: auditory neuropathy, autosomal dominant 3


name: neurodevelopmental disorder with neuromuscular and skeletal abnormalities


name: hypoalphalipoproteinemia, primary, 2, intermediate


name: intellectual developmental disorder with or without peripheral neuropathy


name: neurodegeneration, childhood-onset, with progressive microcephaly


name: neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities


name: spinocerebellar ataxia, autosomal recessive 32


name: corneal dystrophy, punctiform and polychromatic pre-descemet


name: neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures


name: neurodevelopmental disorder with poor growth and skeletal anomalies


name: osteoporosis, childhood- or juvenile-onset, with developmental delay


name: peripheral motor neuropathy, childhood-onset, biotin-responsive


name: neurodevelopmental disorder with language delay and seizures


name: intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism


name: neurodevelopmental disorder with dystonia and seizures


name: attention deficit-hyperactivity disorder 8


name: developmental delay, impaired speech, and behavioral abnormalities, with or without seizures


name: neurodevelopmental disorder with epilepsy and brain atrophy


name: neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

description: An autosomal recessive condition caused by mutations(s) in the TAF8 gene, encoding transcription initiation factor TFIID subunit 8. It is characterized by severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy.


name: glycosylphosphatidylinositol biosynthesis defect 25


name: neurodevelopmental disorder with speech delay and variable ocular anomalies


name: neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies


name: neurodevelopmental disorder with spasticity, seizures, and brain abnormalities


name: intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects


name: keratoderma-ichthyosis-deafness syndrome, autosomal recessive


name: spinal muscular atrophy, distal, autosomal recessive, 6


name: developmental delay, hypotonia, and impaired language


name: intellectual developmental disorder with autism and dysmorphic facies


name: neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures


name: neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities


name: neurodevelopmental disorder with microcephaly, short stature, and speech delay


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


name: neurodevelopmental disorder with microcephaly, hypotonia, and absent language


name: bone marrow failure and diabetes mellitus syndrome


name: familial apolipoprotein gene cluster deletion syndrome


name: developmental delay, behavioral abnormalities, and neuropsychiatric disorders


name: neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment


name: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties


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


name: neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities


name: neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly


name: neuronopathy, distal hereditary motor, autosomal dominant 10


name: neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects


name: hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2


name: intellectual developmental disorder with ocular anomalies and distinctive facial features


name: neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction


name: neurodevelopmental disorder with eye movement abnormalities and ataxia


name: developmental delay with variable intellectual disability and dysmorphic facies


name: spastic paraplegia 88, autosomal dominant


name: Charcot-Marie-Tooth disease, demyelinating, type 1J


name: neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities


name: neurodevelopmental disorder with speech impairment and with or without seizures


name: developmental and epileptic encephalopathy 108


name: pseudohypoaldosteronism, type IB2, autosomal recessive


name: pseudohypoaldosteronism, type IB3, autosomal recessive


name: dyskeratosis congenita, autosomal recessive 8


name: mitochondrial complex I deficiency, nuclear type 39


name: mitochondrial complex 3 deficiency, nuclear type 11


name: myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis


name: combined oxidative phosphorylation deficiency 56


name: developmental delay, language impairment, and ocular abnormalities


name: developmental and epileptic encephalopathy 109


name: developmental and epileptic encephalopathy 110


name: hypomagnesemia 7, renal, with or without dilated cardiomyopathy


name: cortical dysplasia, complex, with other brain malformations 11


name: intellectual developmental disorder, autosomal dominant 70


name: muscular dystrophy, congenital, with or without seizures


name: combined oxidative phosphorylation deficiency 57


name: microcephaly 30, primary, autosomal recessive


name: branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome


name: mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition


name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities


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


name: ciliary dyskinesia, primary, 49, without situs inversus


name: inflammatory poikiloderma with hair abnormalities and acral keratoses


name: congenital disorder of glycosylation, type IIy


name: congenital disorder of glycosylation, type IIz


name: spinocerebellar ataxia, autosomal recessive 33


name: neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia


name: hyperinsulinemic hypoglycemia, familial, 8


name: spastic paraplegia 79A, autosomal dominant, with ataxia


name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures


name: joint contractures, osteochondromas, and B-cell lymphoma


name: respiratory infections, recurrent, and failure to thrive with or without diarrhea


name: cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies


name: intellectual developmental disorder, autosomal recessive 78


name: developmental delay with hypotonia, myopathy, and brain abnormalities


name: hydrocephalus, congenital, 5, susceptibility to


name: neurodevelopmental disorder with poor growth and behavioral abnormalities


name: epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features


name: neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum


name: congenital myopathy 2b, severe infantile, autosomal recessive


name: leukodystrophy, hypomyelinating, 26, with chondrodysplasia


name: neurodevelopmental disorder with absent speech and movement and behavioral abnormalities


name: mitochondrial complex IV deficiency, nuclear type 23


name: congenital myopathy 2c, severe infantile, autosomal dominant


name: immunodeficiency 109 with lymphoproliferation


name: amyotrophic lateral sclerosis 27, juvenile


name: neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures


name: congenital heart defects, multiple types, 9


name: epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features


name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2


name: diaphragmatic hernia 4, with cardiovascular defects


keratosis pilaris atrophicans faciei

description: A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.


childhood low-grade glioma

description: A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.


name: IDH-mutant and 1p/19q-codeleted oligodendroglioma

description: An anaplastic oligodendroglioma that has material basis in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).


cns neuroblastoma with FOXR2 activation

description: A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.


erythroleukemia

description: An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.


name: diffuse low-grade glioma, MAPK pathway–altered

description: A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.


name: diffuse astrocytoma, MYB- or MYBL1-altered

description: A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.


grade I lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.


grade II lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.


grade III lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.


name: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome


name: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome


benign teratoma

description: A germ cell benign neoplasm that derives from mature tissue elements or a limited amount of immature tissue elements.


name: medulloblastoma SHH activated and TP53 mutant

description: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.


name: medulloblastoma SHH activated and TP53 wild-type

description: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.


medulloblastoma non-WNT/non-SHH group 3

description: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.


medulloblastoma non-WNT/non-SHH group 4

description: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present.


chronic inducible urticaria

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


intermittent asthma

description: A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.


T2-high asthma

description: A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.


T2-low asthma

description: A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.


near-fatal asthma

description: An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.


nocturnal asthma

description: A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.


vascular parkinsonism

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


astrocytoma, IDH-mutant, grade 4

description: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.


name: pleomorphic xanthoastrocytoma BRAF mutant

description: An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations.


name: YAP1-MAMLD1 fusion-positive supratentorial ependymoma

description: A supratentorial ependymoma that has material basis in YAP1-MAMLD1 fusion.


lipofibromatosis-like neural tumor

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


description: A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.


EZB-MYC+ diffuse large B-cell lymphoma

description: An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.


EZB-MYC- diffuse large B-cell lymphoma

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


CIC-rearranged sarcoma

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


name: supratentorial ependymoma, ZFTA fusion–positive

description: A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.


name: supratentorial ependymoma, YAP1 fusion–positive

description: A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.


posterior fossa group A ependymoma

description: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.


posterior fossa group B ependymoma

description: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.


astrocytoma, IDH-mutant, grade 2

description: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.


astrocytoma, IDH-mutant, grade 3

description: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.


name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2

description: An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).


name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3

description: An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.


name: neurological muscular channelopathy due to a genetic sodium channel defect


name: neurological muscular channelopathy due to a genetic chloride channel defect


name: neurological muscular channelopathy due to a genetic calcium channel defect


name: neurological muscular channelopathy due to a genetic potassium channel defect


name: neurological muscular channelopathy due to a genetic ryanodine receptor defect


diffuse midline glioma, H3 K27M-mutant

description: A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.


diffuse glioma, H3 G34 mutant

description: A histone mutated tumor that has material basis in mutations in codon 34 of the H3 histone family 3A protein.


name: intellectual developmental disorder, X-linked 111


name: autoinflammation with pulmonary and cutaneous vasculitis


name: pituitary hormone deficiency, combined or isolated, 8


name: neurodegeneration and seizures due to copper transport defect


name: cortical dysplasia, complex, with other brain malformations 12


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


name: oocyte/zygote/embryo maturation arrest 17


name: spastic paraplegia 70, autosomal recessive


name: congenital myopathy 21 with early respiratory failure


name: neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities


name: intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities


name: oocyte/zygote/embryo maturation arrest 18


name: oocyte/zygote/embryo maturation arrest 19


name: developmental and epileptic encephalopathy 31B


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 7


name: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7


name: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8


name: cerebroretinal microangiopathy with calcifications and cysts 3


name: neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity


name: muscular dystrophy, limb-girdle, autosomal recessive 28


name: autoinflammatory disease, systemic, with vasculitis


name: Charcot-Marie-Tooth disease, dominant intermediate A


name: spastic paraplegia 89, autosomal recessive


name: oocyte/zygote/embryo maturation arrest 20


name: auditory neuropathy, autosomal dominant 2


name: nemaline myopathy 5B, autosomal recessive, childhood-onset


name: nemaline myopathy 5C, autosomal dominant


name: intellectual developmental disorder, autosomal recessive 79


name: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9


name: palmoplantar keratoderma, epidermolytic, 2


name: spastic paraplegia 90A, autosomal dominant


name: spastic paraplegia 90B, autosomal recessive


name: multiple mitochondrial dysfunctions syndrome 7


name: dystonia 37, early-onset, with striatal lesions


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


name: autoimmune disease, multisystem, infantile-onset, 3


name: intellectual developmental disorder, autosomal dominant 72

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


name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis


name: granulomatous autoinflammatory syndrome of childhood


type 1 interferonopathy of childhood

description: A type 1 interferonopathy that occurs during childhood.


borna virus encephalitis

description: A human disease caused by infection with Borna disease virus.


name: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)


name: B-lymphoblastic leukemia/lymphoma with t(17;19)


name: autosomal recessive ataxia due to PEX16 deficiency


name: autosomal recessive ataxia due to PEX2 deficiency


non-terminal myelocystocele

description: A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.


true myelomeningocele

description: A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).


hemi-myelomeningocele

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


name: primary tuberculosis of the digestive system


name: craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome


name: MYT1L-related developmental delay-intellectual disability-obesity syndrome


name: autoinflammatory disease, multisystem, with immune dysregulation, X-linked


name: hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature


name: intellectual developmental disorder, X-linked 112


name: disabling pansclerotic morphea of childhood

description: Localized scleroderma presenting before the age of eighteen.


diffuse gastric cancer

description: A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.


name: COX deficiency, benign infantile mitochondrial myopathy

description: A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.


name: breast-ovarian cancer, familial, susceptibility to, 5


name: neurodevelopmental disorder with microcephaly and movement abnormalities


name: megalencephalic leukoencephalopathy with subcortical cysts 3


name: megalencephalic leukoencephalopathy with subcortical cysts 4, remitting


name: intellectual developmental disorder, autosomal dominant 73


name: combined oxidative phosphorylation deficiency 58


name: congenital disorder of glycosylation, type IIaa


name: neurodevelopmental disorder with hypotonia and speech delay, with or without seizures


name: hearing loss, noise-induced, susceptibility to


name: encephalitis, acute, infection-induced, susceptibility to, 12


name: cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay


name: congenital smooth muscle hamartoma, with or without hemihypertrophy


name: amegakaryocytic thrombocytopenia, congenital, 2


name: parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development


name: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities


name: neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies


name: neurodevelopmental disorder with language delay and variable cognitive abnormalities


name: developmental and epileptic encephalopathy 111


name: xerosis and growth failure with immune and pulmonary dysfunction syndrome


name: spastic paraplegia 18a, autosomal dominant


name: immune dysregulation, autoimmunity, and autoinflammation


name: neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction


name: arrhythmogenic cardiomyopathy with variable ectodermal abnormalities


name: hyper-IgE syndrome 6, autosomal dominant, with recurrent infections


name: neutropenia, severe congenital, 10, autosomal recessive


name: developmental delay, dysmorphic facies, and brain anomalies


name: developmental and epileptic encephalopathy 112


name: spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia


name: developmental delay with or without epilepsy


name: congenital disorder of glycosylation, type IIbb


name: craniometadiaphyseal osteosclerosis with hip dysplasia


name: leukoencephalopathy with vanishing white matter 2


name: leukoencephalopathy with vanishing white matter 3


name: leukoencephalopathy with vanishing white matter 4


name: leukoencephalopathy with vanishing white matter 5


name: neuronopathy, distal hereditary motor, autosomal recessive 9


name: neuronopathy, distal hereditary motor, autosomal dominant 11


name: neuronopathy, distal hereditary motor, autosomal recessive 10


name: metabolic dysfunction and alcohol associated liver disease

description: A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors.


description: An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.


name: immunodeficiency 113 with autoimmunity and autoinflammation


name: spastic paraplegia 72b, autosomal recessive


name: oocyte/zygote/embryo maturation arrest 21


name: immunodeficiency 115 with autoinflammation


name: neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline


name: combined oxidative phosphorylation deficiency 59


name: progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6


name: diabetes, deafness, developmental delay, and short stature syndrome


name: intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly


name: thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies


name: spondyloepimetaphyseal dysplasia, Guo-Campeau type


name: neurodegeneration with brain iron accumulation 9


name: neutropenia, severe congenital, 11, autosomal dominant


name: lipodystrophy, congenital generalized, type 5


name: Hao-Fountain syndrome due to USP7 mutation


name: intramedullary non-dysraphic spinal cord lipoma

description: A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura.


myeloschisis

description: A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation.


name: collagen 6-related congenital muscular dystrophy


digenic hemochromatosis

description: A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient.


name: cleft palate-congenital heart defect-intellectual disability syndrome


name: adult-onset progressive leukoencephalopathy-early-onset deafness

description: A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.


name: Nodal T-follicular helper cell lymphoma, follicular type


name: monomorphic epitheliotropic intestinal T-cell lymphoma


name: congenital insensitivity to pain syndrome, Marsili type


name: autosomal recessive combined immunodeficiency due to complete IL6ST deficiency


name: autosomal recessive combined immunodeficiency due to partial IL6ST deficiency


name: autosomal dominant combined immunodeficiency due to partial IL6ST deficiency


name: autosomal recessive combined immunodeficiency due to IL6R deficiency


name: embryonal tumor with multilayered rosettes

description: A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.


name: autosomal dominant combined immunodeficiency due to ERBIN deficiency


name: COQ7-related distal hereditary motor neuropathy


name: Greig cephalopolysyndactyly-contiguous gene syndrome


name: early-onset autoimmune disorder due to DOCK11 partial deficiency


name: early-onset immune dysregulation due to DOCK11 complete deficiency


sarcoma with BCOR genetic alterations

description: A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.


name: round cell sarcoma with EWSR1-non-ETS fusion

description: A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.


name: B acute lymphoblastic leukemia with PAX5 P80R mutation

description: A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.


name: B acute lymphoblastic leukemia with DUX4 rearrangement

description: A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.


poorly differentiated chordoma

description: A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.


anaplastic sarcoma of the kidney

description: A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.


oculopharyngeal muscular dystrophy 1

description: An autosomal dominant disorder caused by mutations in the PABPN1 gene, encoding polyadenylate-binding protein 2. The condition is characterized by progressive ptosis, dysphagia and weakness of the muscles of the face, neck, and extraocular muscles.


name: chronic recurrent multifocal osteomyelitis 3


name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1


name: prolonged electroretinal response suppression 1


name: mitochondrial trifunctional protein deficiency 1


name: Leber-like hereditary optic neuropathy, autosomal recessive 1


name: mitochondrial trifunctional protein deficiency 2


name: prolonged electroretinal response suppression 2


name: nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis


name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2


name: epilepsy, early-onset, 3, with or without developmental delay


name: Leber-like hereditary optic neuropathy, autosomal recessive 2


myoclonic epilepsy of Lafora 1

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


name: intellectual developmental disorder, x-linked 113


name: intellectual developmental disorder, autosomal dominant 74


name: intellectual developmental disorder, autosomal recessive 81


name: neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism


name: Ullrich congenital muscular dystrophy 1B


name: Ullrich congenital muscular dystrophy 1C


name: hyperemesis gravidarum, susceptibility to


name: neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities


name: cardiomyopathy, familial hypertrophic, 30, atrial


name: pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome


name: psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome


name: Cushing syndrome due to cortisol-producing adrenocortical adenoma


dysraphism with stalk

description: A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.


dysraphic spinal cord lipoma

description: A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect.


name: isolated primary pigmented nodular adrenocortical disease


name: isolated micronodular adrenocortical disease


name: non-syndromic congenital bronchial atresia


name: cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation


name: neurodevelopmental disorder with hypotonia and characteristic brain abnormalities


BCOR ITD sarcoma

description: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.


BCOR-CCNB3 sarcoma

description: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.


name: childhood sarcoma with BCOR genetic alterations

description: A sarcoma with BCOR genetic alterations that occurs during childhood.


name: childhood round cell sarcoma with EWSR1-non-ETS fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.


name: round cell sarcoma with EWSR1-NFATC2 gene fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.


name: round cell sarcoma with EWSR1-PATZ1 gene fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.


name: round cell sarcoma with FUS-NFATC2 gene fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.


TFEB-rearranged renal cell carcinoma

description: A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, with the MALAT1 gene.


name: childhood renal cell carcinoma with MiT translocations

description: A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.


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


name: neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities


name: generalized epilepsy with febrile seizures plus, type 12


name: thrombocytopenia 12 with or without myopathy


name: macular dystrophy with or without cone dysfunction


name: developmental and epileptic encephalopathy 113


name: developmental and epileptic encephalopathy 114


name: neuromuscular disorder, congenital, with dysmorphic facies


name: cutis laxa, autosomal recessive, type 1d


isolated optic nerve aplasia

description: A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.


PAPASH syndrome

description: A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.


spinal dermal sinus

description: A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery.


limited dorsal myeloschisis

description: A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present.


isolated transitional filum lipoma

description: A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.


isolated filum lipoma

description: A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation.


retained medullary cord

description: A rare closed dysraphism with terminal stalk characterized by persistent rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus.


dorsal spinal cord lipoma

description: A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities.


conus spinal cord lipoma

description: A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus.


hemi-myeloschisis

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


true myeloschisis

description: A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation).


name: intermediate collagen VI-related muscular dystrophy

description: A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.


name: genetic central precocious puberty in female


name: secondary central precocious puberty in female


name: primary central precocious puberty in male


name: secondary central precocious puberty in male


name: intellectual developmental disorder, autosomal recessive 82


name: neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder


name: developmental and epileptic encephalopathy 115


name: neurodevelopmental disorder plus optic atrophy


isolated arhinencephaly

description: Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.


large B-cell lymphoma

description: A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.


name: neurodevelopmental disorder with progressive movement abnormalities


name: basal ganglia calcification, idiopathic, 9, autosomal recessive


name: neurodevelopmental disorder with hypotonia and seizures


name: autosomal recessive nonsyndromic hearing loss 124


name: autoinflammation with episodic fever and immune dysregulation


name: proteasome-associated autoinflammatory syndrome 6


chaotic conus spinal cord lipoma

description: A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery.


extramedullary conus spinal cord lipoma

description: A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs.


name: saccular spinal dysraphism with a stalk to the dome

description: A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation).


name: non-saccular limited dorsal myeloschisis

description: A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity.


pythiosis

description: A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.


epilepsy, non-human animal

description: Epilepsy that occurs in non-human animals.


myoclonus, non-human animal

description: Myoclonus that occurs in non-human animals.


narcolepsy, non-human animal

description: Narcolepsy that occurs in non-human animals.


paroxysmal dyskinesia, non-human animal

description: Paroxysmal dyskinesia that occurs in non-human animals.


name: autism spectrum disorder, non-human animal

description: Autism spectrum disorder that occurs in non-human animals.


name: Phelan-McDermid syndrome, non-human animal

description: Phelan-McDermid syndrome that occurs in non-human animals.


name: subvalvular aortic stenosis, non-human animal

description: Subvalvular aortic stenosis that occurs in non-human animals.


atherosclerosis, non-human animal

description: Atherosclerosis that occurs in non-human animals.


atrial septal defect, non-human animal

description: Atrial septal defect that occurs in non-human animals.


cardiomyopathy, non-human animal

description: Cardiomyopathy that occurs in non-human animals.


name: dilated cardiomyopathy, non-human animal

description: Dilated cardiomyopathy that occurs in non-human animals.


name: conotruncal heart malformations, non-human animal

description: Conotruncal heart malformations that occurs in non-human animals.


name: cor triatriatum dexter, non-human animal

description: Cor triatriatum dexter that occurs in non-human animals.


name: essential hypertension, non-human animal

description: Essential hypertension that occurs in non-human animals.


name: hypertrophic cardiomyopathy, non-human animal

description: Hypertrophic cardiomyopathy that occurs in non-human animals.


mitral valve stenosis, non-human animal

description: Mitral valve stenosis that occurs in non-human animals.


name: patent ductus arteriosus, non-human animal

description: Patent ductus arteriosus that occurs in non-human animals.


name: persistent truncus arteriosus, non-human animal

description: Persistent truncus arteriosus that occurs in non-human animals.


name: arrhythmogenic right ventricular cardiomyopathy, non-human animal

description: Arrhythmogenic right ventricular cardiomyopathy that occurs in non-human animals.


name: supravalvular aortic stenosis, non-human animal

description: Supravalvular aortic stenosis that occurs in non-human animals.


tetralogy of fallot, non-human animal

description: Tetralogy of fallot that occurs in non-human animals.


name: ventricular septal defect, non-human animal

description: Ventricular septal defect that occurs in non-human animals.


patent ductus venosus, non-human animal

description: Patent ductus venosus that occurs in non-human animals.


atrial fibrillation, non-human animal

description: Atrial fibrillation that occurs in non-human animals.


name: Wolff-Parkinson-White syndrome, non-human animal

description: Wolff-Parkinson-White syndrome that occurs in non-human animals.


Budd-Chiari syndrome, non-human animal

description: Budd-Chiari syndrome that occurs in non-human animals.


name: endocardial fibroelastosis, non-human animal

description: Endocardial fibroelastosis that occurs in non-human animals.


name: cerebral amyloid angiopathy, non-human animal

description: Cerebral amyloid angiopathy that occurs in non-human animals.


aleutian mink disease, human

description: A human disease caused by infection with Aleutian mink disease parvovirus.


triploidy, non-human animal

description: Triploidy that occurs in non-human animals.


Jacobsen syndrome, non-human animal

description: Jacobsen syndrome that occurs in non-human animals.


holoprosencephaly, non-human animal

description: Holoprosencephaly that occurs in non-human animals.


name: cleft lip with or without cleft palate, non-human animal

description: Cleft lip with or without cleft palate that occurs in non-human animals.


name: mandibulofacial dysostosis, non-human animal

description: Mandibulofacial dysostosis that occurs in non-human animals.


frontonasal dysplasia, non-human animal

description: Frontonasal dysplasia that occurs in non-human animals.


cleft palate, non-human animal

description: Cleft palate that occurs in non-human animals.


gingival hypertrophy, non-human animal

description: Gingival hypertrophy that occurs in non-human animals.


megacolon, non-human animal

description: Megacolon that occurs in non-human animals.


pyloric stenosis, non-human animal

description: Pyloric stenosis that occurs in non-human animals.


Meckel diverticulum, non-human animal

description: Meckel diverticulum that occurs in non-human animals.


name: protein-losing enteropathy, non-human animal

description: Protein-losing enteropathy that occurs in non-human animals.


cystic fibrosis, non-human animal

description: Cystic fibrosis that occurs in non-human animals.


name: microvillus inclusion disease, non-human animal

description: Microvillus inclusion disease that occurs in non-human animals.


diprosopus, non-human animal

description: Diprosopus that occurs in non-human animals.


patent urachus, non-human animal

description: Patent urachus that occurs in non-human animals.


spina bifida, non-human animal

description: Spina bifida that occurs in non-human animals.


spina bifida occulta, non-human animal

description: Spina bifida occulta that occurs in non-human animals.


acromegaly, non-human animal

description: Acromegaly that occurs in non-human animals.


name: congenital adrenal hyperplasia, non-human animal

description: Congenital adrenal hyperplasia that occurs in non-human animals.


diabetes insipidus, non-human animal

description: Diabetes insipidus that occurs in non-human animals.


diabetes mellitus, non-human animal

description: Diabetes mellitus that occurs in non-human animals.


familial goiter, non-human animal

description: Familial goiter that occurs in non-human animals.


hyperparathyroidism, non-human animal

description: Hyperparathyroidism that occurs in non-human animals.


hyperthyroidism, non-human animal

description: Hyperthyroidism that occurs in non-human animals.


hypoparathyroidism, non-human animal

description: Hypoparathyroidism that occurs in non-human animals.


name: congenital hypothyroidism, non-human animal

description: Congenital hypothyroidism that occurs in non-human animals.


name: exocrine pancreatic insufficiency, non-human animal

description: Exocrine pancreatic insufficiency that occurs in non-human animals.


thyroiditis, non-human animal

description: Thyroiditis that occurs in non-human animals.


pheochromocytoma, non-human animal

description: Pheochromocytoma that occurs in non-human animals.


hyperaldosteronism, non-human animal

description: Hyperaldosteronism that occurs in non-human animals.


name: congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal

description: Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in non-human animals.


name: congenital adrenal hypoplasia, non-human animal

description: Congenital adrenal hypoplasia that occurs in non-human animals.


microcephaly, non-human animal

description: Microcephaly that occurs in non-human animals.


omphalocele, non-human animal

description: Omphalocele that occurs in non-human animals.


situs inversus, non-human animal

description: Situs inversus that occurs in non-human animals.


name: autoimmune thrombocytopenia, non-human animal

description: Autoimmune thrombocytopenia that occurs in non-human animals.


name: Chediak-Higashi syndrome, non-human animal

description: Chediak-Higashi syndrome that occurs in non-human animals.


factor VII deficiency, non-human animal

description: Factor VII deficiency that occurs in non-human animals.


factor X deficiency, non-human animal

description: Factor X deficiency that occurs in non-human animals.


factor XI deficiency, non-human animal

description: Factor XI deficiency that occurs in non-human animals.


factor XII deficiency, non-human animal

description: Factor XII deficiency that occurs in non-human animals.


hemophilia B, non-human animal

description: Hemophilia B that occurs in non-human animals.


name: hypereosinophilic syndrome, non-human animal

description: Hypereosinophilic syndrome that occurs in non-human animals.


Pelger-Huet anomaly, non-human animal

description: Pelger-Huet anomaly that occurs in non-human animals.


polycythemia, non-human animal

description: Polycythemia that occurs in non-human animals.


name: prekallikrein deficiency, non-human animal

description: Prekallikrein deficiency that occurs in non-human animals.


thrombocytopenia, non-human animal

description: Thrombocytopenia that occurs in non-human animals.


name: autoimmune thrombocytopenic purpura, non-human animal

description: Autoimmune thrombocytopenic purpura that occurs in non-human animals.


Evans syndrome, non-human animal

description: Evans syndrome that occurs in non-human animals.


Scott Syndrome, non-human animal

description: Scott Syndrome that occurs in non-human animals.


name: factor XIII deficiency, non-human animal

description: Factor XIII deficiency that occurs in non-human animals.


name: myeloperoxidase deficiency, non-human animal

description: Myeloperoxidase deficiency that occurs in non-human animals.


anotia, non-human animal

description: Anotia that occurs in non-human animals.


microtia, non-human animal

description: Microtia that occurs in non-human animals.


AA amyloidosis, non-human animal

description: AA amyloidosis that occurs in non-human animals.


AL amyloidosis, non-human animal

description: AL amyloidosis that occurs in non-human animals.


description: Analphalipoproteinaemia that occurs in non-human animals.


citrullinemia, non-human animal

description: Citrullinemia that occurs in non-human animals.


name: pyruvate kinase deficiency of erythrocyte, non-human animal

description: Pyruvate kinase deficiency of erythrocyte that occurs in non-human animals.


galactosemia, non-human animal

description: Galactosemia that occurs in non-human animals.


name: porphyria cutanea tarda, non-human animal

description: Porphyria cutanea tarda that occurs in non-human animals.


eclampsia, non-human animal

description: Eclampsia that occurs in non-human animals.


name: trimethylaminuria (fishy taint), non-human animal

description: Trimethylaminuria (fishy taint) that occurs in non-human animals.


name: pyruvate dehydrogenase deficiency, non-human animal

description: Pyruvate dehydrogenase deficiency that occurs in non-human animals.


name: multiple acyl-coa dehydrogenase deficiency, non-human animal

description: Multiple acyl-coa dehydrogenase deficiency that occurs in non-human animals.


name: acute intermittent porphyria, non-human animal

description: Acute intermittent porphyria that occurs in non-human animals.


name: dihydropyrimidinase deficiency, non-human animal

description: Dihydropyrimidinase deficiency that occurs in non-human animals.


hyperphosphatemia, non-human animal

description: Hyperphosphatemia that occurs in non-human animals.


name: glucocorticoid resistance, non-human animal

description: Glucocorticoid resistance that occurs in non-human animals.


phenylketonuria, non-human animal

description: Phenylketonuria that occurs in non-human animals.


c8 deficiency, non-human animal

description: C8 deficiency that occurs in non-human animals.


name: systemic lupus erythematosus, non-human animal

description: Systemic lupus erythematosus that occurs in non-human animals.


scleroderma, non-human animal

description: Scleroderma that occurs in non-human animals.


name: periodic fever syndrome, non-human animal

description: Periodic fever syndrome that occurs in non-human animals.


name: common variable immunodeficiency, non-human animal

description: Common variable immunodeficiency that occurs in non-human animals.


name: autoimmune lymphoproliferative syndrome, non-human animal

description: Autoimmune lymphoproliferative syndrome that occurs in non-human animals.


atopic dermatitis, non-human animal

description: Atopic dermatitis that occurs in non-human animals.


dermatomyositis, non-human animal

description: Dermatomyositis that occurs in non-human animals.


epidermolysis bullosa, non-human animal

description: Epidermolysis bullosa that occurs in non-human animals.


hypertrichosis, non-human animal

description: Hypertrichosis that occurs in non-human animals.


name: acrodermatitis enteropathica, non-human animal

description: Acrodermatitis enteropathica that occurs in non-human animals.


pityriasis rosea, non-human animal

description: Pityriasis rosea that occurs in non-human animals.


protoporphyria, non-human animal

description: Protoporphyria that occurs in non-human animals.


vitiligo, non-human animal

description: Vitiligo that occurs in non-human animals.


bullous pemphigoid, non-human animal

description: Bullous pemphigoid that occurs in non-human animals.


pemphigus, non-human animal

description: Pemphigus that occurs in non-human animals.


name: atrichia with papular lesions, non-human animal

description: Atrichia with papular lesions that occurs in non-human animals.


alopecia areata, non-human animal

description: Alopecia areata that occurs in non-human animals.


name: ectodermal dysplasia/skin fragility syndrome, non-human animal

description: Ectodermal dysplasia/skin fragility syndrome that occurs in non-human animals.


pyoderma, non-human animal

description: Pyoderma that occurs in non-human animals.


name: incontinentia pigmenti, non-human animal

description: Incontinentia pigmenti that occurs in non-human animals.


stiff skin syndrome, non-human animal

description: Stiff skin syndrome that occurs in non-human animals.


name: tricho-dento-osseous-like syndrome, non-human animal

description: Tricho-dento-osseous-like syndrome that occurs in non-human animals.


Darier disease, non-human animal

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


cutis laxa, non-human animal

description: Cutis laxa that occurs in non-human animals.


brachydactyly, non-human animal

description: Brachydactyly that occurs in non-human animals.


hyperostosis, non-human animal

description: Hyperostosis that occurs in non-human animals.


polydactyly, non-human animal

description: Polydactyly that occurs in non-human animals.


split hand, non-human animal

description: Split hand that occurs in non-human animals.


syndactyly, non-human animal

description: Syndactyly that occurs in non-human animals.


tibial hemimelia, non-human animal

description: Tibial hemimelia that occurs in non-human animals.


radial hemimelia, non-human animal

description: Radial hemimelia that occurs in non-human animals.


tetradysmelia, non-human animal

description: Tetradysmelia that occurs in non-human animals.


Wilson disease, non-human animal

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


galactosialidosis, non-human animal

description: Galactosialidosis that occurs in non-human animals.


gangliosidosis, non-human animal

description: Gangliosidosis that occurs in non-human animals.


Krabbe disease, non-human animal

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


name: lysosomal storage disease, non-human animal

description: Lysosomal storage disease that occurs in non-human animals.


alpha-mannosidosis, non-human animal

description: Alpha-mannosidosis that occurs in non-human animals.


name: deficiency of uridine monophosphate synthase, non-human animal

description: Deficiency of uridine monophosphate synthase that occurs in non-human animals.


central core myopathy, non-human animal

description: Central core myopathy that occurs in non-human animals.


myopathy, non-human animal

description: Myopathy that occurs in non-human animals.


congenital myopathy, non-human animal

description: Congenital myopathy that occurs in non-human animals.


myositis ossificans, non-human animal

description: Myositis ossificans that occurs in non-human animals.


myotonic dystrophy, non-human animal

description: Myotonic dystrophy that occurs in non-human animals.


name: muscular dystrophy, Duchenne type, non-human animal

description: Muscular dystrophy, Duchenne type that occurs in non-human animals.


name: congenital pseudomyotonia, non-human animal

description: Congenital pseudomyotonia that occurs in non-human animals.


myotubular myopathy 1, non-human animal

description: Myotubular myopathy 1 that occurs in non-human animals.


polymyositis, non-human animal

description: Polymyositis that occurs in non-human animals.


myofibrillar myopathy, non-human animal

description: Myofibrillar myopathy that occurs in non-human animals.


lymphosarcoma, non-human animal

description: Lymphosarcoma that occurs in non-human animals.


name: malignant histiocytosis, non-human animal

description: Malignant histiocytosis that occurs in non-human animals.


mycosis fungoides, non-human animal

description: Mycosis fungoides that occurs in non-human animals.


osteosarcoma, non-human animal

description: Osteosarcoma that occurs in non-human animals.


name: chronic monocytic leukemia, non-human animal

description: Chronic monocytic leukemia that occurs in non-human animals.


non-hodgkin lymphoma, non-human animal

description: Non-hodgkin lymphoma that occurs in non-human animals.


name: familial adenomatous polyposis, non-human animal

description: Familial adenomatous polyposis that occurs in non-human animals.


name: embryonal rhabdomyosarcoma, non-human animal

description: Embryonal rhabdomyosarcoma that occurs in non-human animals.


schwannomatosis, non-human animal

description: Schwannomatosis that occurs in non-human animals.


ameloblastoma, non-human animal

description: Ameloblastoma that occurs in non-human animals.


name: chronic myelomonocytic leukemia, non-human animal

description: Chronic myelomonocytic leukemia that occurs in non-human animals.


prostate cancer, non-human animal

description: Prostate cancer that occurs in non-human animals.


name: benign prostatic hyperplasia, non-human animal

description: Benign prostatic hyperplasia that occurs in non-human animals.


cystic hygroma, non-human animal

description: Cystic hygroma that occurs in non-human animals.


lymphangiosarcoma, non-human animal

description: Lymphangiosarcoma that occurs in non-human animals.


cauda equina syndrome, non-human animal

description: Cauda equina syndrome that occurs in non-human animals.


Dandy-Walker syndrome, non-human animal

description: Dandy-Walker syndrome that occurs in non-human animals.


dysautonomia, non-human animal

description: Dysautonomia that occurs in non-human animals.


name: hepatic encephalopathy, non-human animal

description: Hepatic encephalopathy that occurs in non-human animals.


Huntington disease, non-human animal

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


hydranencephaly, non-human animal

description: Hydranencephaly that occurs in non-human animals.


hydrocephalus, non-human animal

description: Hydrocephalus that occurs in non-human animals.


name: olivopontocerebellar atrophy, non-human animal

description: Olivopontocerebellar atrophy that occurs in non-human animals.


name: spinal muscular atrophy, non-human animal

description: Spinal muscular atrophy that occurs in non-human animals.


syringomyelia, non-human animal

description: Syringomyelia that occurs in non-human animals.


polymicrogyria, non-human animal

description: Polymicrogyria that occurs in non-human animals.


leukodystrophy, non-human animal

description: Leukodystrophy that occurs in non-human animals.


peripheral neuropathy, non-human animal

description: Peripheral neuropathy that occurs in non-human animals.


Horner syndrome, non-human animal

description: Horner syndrome that occurs in non-human animals.


name: giant axonal neuropathy, non-human animal

description: Giant axonal neuropathy that occurs in non-human animals.


Alexander disease, non-human animal

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


name: cerebellar degeneration, non-human animal

description: Cerebellar degeneration that occurs in non-human animals.


description: L-2-hydroxyglutaricacidemia that occurs in non-human animals.


hyperekplexia, non-human animal

description: Hyperekplexia that occurs in non-human animals.


name: lissencephaly and cerebellar hypoplasia, non-human animal

description: Lissencephaly and cerebellar hypoplasia that occurs in non-human animals.


ataxia telangiectasia, non-human animal

description: Ataxia telangiectasia that occurs in non-human animals.


name: succinic semialdehyde dehydrogenase deficiency, non-human animal

description: Succinic semialdehyde dehydrogenase deficiency that occurs in non-human animals.


glomerulonephritis, non-human animal

description: Glomerulonephritis that occurs in non-human animals.


nephritis, non-human animal

description: Nephritis that occurs in non-human animals.


nephrolithiasis, non-human animal

description: Nephrolithiasis that occurs in non-human animals.


nephrotic syndrome, non-human animal

description: Nephrotic syndrome that occurs in non-human animals.


name: polycystic kidney disease, non-human animal

description: Polycystic kidney disease that occurs in non-human animals.


renal hypoplasia, non-human animal

description: Renal hypoplasia that occurs in non-human animals.


name: renal hypoplasia, unilateral, non-human animal

description: Renal hypoplasia, unilateral that occurs in non-human animals.


name: renal hypoplasia, bilateral, non-human animal

description: Renal hypoplasia, bilateral that occurs in non-human animals.


urolithiasis, non-human animal

description: Urolithiasis that occurs in non-human animals.


renal dysplasia, non-human animal

description: Renal dysplasia that occurs in non-human animals.


hypospadias, non-human animal

description: Hypospadias that occurs in non-human animals.


alkaptonuria, non-human animal

description: Alkaptonuria that occurs in non-human animals.


renal agenesis, non-human animal

description: Renal agenesis that occurs in non-human animals.


cryptorchidism, non-human animal

description: Cryptorchidism that occurs in non-human animals.


hypogonadism, non-human animal

description: Hypogonadism that occurs in non-human animals.


orchitis, non-human animal

description: Orchitis that occurs in non-human animals.


name: persistent Mullerian duct syndrome, non-human animal

description: Persistent Mullerian duct syndrome that occurs in non-human animals.


hymen, imperforate, non-human animal

description: Hymen, imperforate that occurs in non-human animals.


priapism, non-human animal

description: Priapism that occurs in non-human animals.


name: testicular regression syndrome, non-human animal

description: Testicular regression syndrome that occurs in non-human animals.


azoospermia, non-human animal

description: Azoospermia that occurs in non-human animals.


allergic rhinitis, non-human animal

description: Allergic rhinitis that occurs in non-human animals.


atrophic rhinitis, non-human animal

description: Atrophic rhinitis that occurs in non-human animals.


pneumothorax, non-human animal

description: Pneumothorax that occurs in non-human animals.


name: pulmonary hypertension, non-human animal

description: Pulmonary hypertension that occurs in non-human animals.


choanal atresia, non-human animal

description: Choanal atresia that occurs in non-human animals.


pulmonary agenesis, non-human animal

description: Pulmonary agenesis that occurs in non-human animals.


achondroplasia, non-human animal

description: Achondroplasia that occurs in non-human animals.


name: ankylosing spondylitis, non-human animal

description: Ankylosing spondylitis that occurs in non-human animals.


anodontia, non-human animal

description: Anodontia that occurs in non-human animals.


rheumatoid arthritis, non-human animal

description: Rheumatoid arthritis that occurs in non-human animals.


osteoporosis, non-human animal

description: Osteoporosis that occurs in non-human animals.


Marfan syndrome, non-human animal

description: Marfan syndrome that occurs in non-human animals.


osteoarthritis, non-human animal

description: Osteoarthritis that occurs in non-human animals.


name: osteochondritis dissecans, non-human animal

description: Osteochondritis dissecans that occurs in non-human animals.


osteochondrosis, non-human animal

description: Osteochondrosis that occurs in non-human animals.


osteopetrosis, non-human animal

description: Osteopetrosis that occurs in non-human animals.


scoliosis, non-human animal

description: Scoliosis that occurs in non-human animals.


spinal stenosis, non-human animal

description: Spinal stenosis that occurs in non-human animals.


name: synovial chondromatosis, non-human animal

description: Synovial chondromatosis that occurs in non-human animals.


craniosynostosis, non-human animal

description: Craniosynostosis that occurs in non-human animals.


osteochondrodysplasia, non-human animal

description: Osteochondrodysplasia that occurs in non-human animals.


name: schmid metaphyseal chondrodysplasia dwarfism, non-human animal

description: Schmid metaphyseal chondrodysplasia dwarfism that occurs in non-human animals.


name: osteopetrosis with gingival hamartomas, non-human animal

description: Osteopetrosis with gingival hamartomas that occurs in non-human animals.


name: spondylocostal dysostosis, autosomal recessive, non-human animal

description: Spondylocostal dysostosis, autosomal recessive that occurs in non-human animals.


name: Van den Ende-Gupta syndrome, non-human animal

description: Van den Ende-Gupta syndrome that occurs in non-human animals.


periodontitis, non-human animal

description: Periodontitis that occurs in non-human animals.


hypophosphatasia, non-human animal

description: Hypophosphatasia that occurs in non-human animals.


GAPO syndrome, non-human animal

description: GAPO syndrome that occurs in non-human animals.


coloboma, non-human animal

description: Coloboma that occurs in non-human animals.


corneal dystrophy, non-human animal

description: Corneal dystrophy that occurs in non-human animals.


retinal detachment, non-human animal

description: Retinal detachment that occurs in non-human animals.


ectropion, non-human animal

description: Ectropion that occurs in non-human animals.


entropion, non-human animal

description: Entropion that occurs in non-human animals.


microphthalmia, non-human animal

description: Microphthalmia that occurs in non-human animals.


congenital nystagmus, non-human animal

description: Congenital nystagmus that occurs in non-human animals.


retinal degeneration, non-human animal

description: Retinal degeneration that occurs in non-human animals.


strabismus, non-human animal

description: Strabismus that occurs in non-human animals.


retinoschisis, non-human animal

description: Retinoschisis that occurs in non-human animals.


name: Leber congenital amaurosis, non-human animal

description: Leber congenital amaurosis that occurs in non-human animals.


keratitis, non-human animal

description: Keratitis that occurs in non-human animals.


retinitis pigmentosa, non-human animal

description: Retinitis pigmentosa that occurs in non-human animals.


myopia, non-human animal

description: Myopia that occurs in non-human animals.


diabetic cataract, non-human animal

description: Diabetic cataract that occurs in non-human animals.


Peters anomaly, non-human animal

description: Peters anomaly that occurs in non-human animals.


name: macular corneal dystrophy, non-human animal

description: Macular corneal dystrophy that occurs in non-human animals.


name: age-related macular degeneration, non-human animal

description: Age-related macular degeneration that occurs in non-human animals.


name: microphthalmia, isolated, with coloboma, non-human animal

description: Microphthalmia, isolated, with coloboma that occurs in non-human animals.


name: Leber hereditary optic neuropathy, non-human animal

description: Leber hereditary optic neuropathy that occurs in non-human animals.


night blindness, non-human animal

description: Night blindness that occurs in non-human animals.


dacryocystitis, non-human animal

description: Dacryocystitis that occurs in non-human animals.


name: hyperphagia leading to hepatic steatosis, non-human animal

description: Hyperphagia leading to hepatic steatosis that occurs in non-human animals.


epilepsy, golden hamster

description: Epilepsy that occurs in golden hamster.


epilepsy, Mongolian gerbil

description: Epilepsy that occurs in Mongolian gerbil.


epilepsy, chicken

description: Epilepsy that occurs in chicken.


epilepsy, white-tufted-ear marmoset

description: Epilepsy that occurs in white-tufted-ear marmoset.


epilepsy, dog

description: Epilepsy that occurs in dog.


epilepsy, domestic cat

description: Epilepsy that occurs in domestic cat.


epilepsy, horse

description: Epilepsy that occurs in horse.


epilepsy, cattle

description: Epilepsy that occurs in cattle.


epilepsy, rabbit

description: Epilepsy that occurs in rabbit.


myoclonus, horse

description: Myoclonus that occurs in horse.


myoclonus, cattle

description: Myoclonus that occurs in cattle.


narcolepsy, dog

description: Narcolepsy that occurs in dog.


narcolepsy, domestic cat

description: Narcolepsy that occurs in domestic cat.


narcolepsy, horse

description: Narcolepsy that occurs in horse.


narcolepsy, sheep

description: Narcolepsy that occurs in sheep.


paroxysmal dyskinesia, dog

description: Paroxysmal dyskinesia that occurs in dog.


paroxysmal dyskinesia, domestic cat

description: Paroxysmal dyskinesia that occurs in domestic cat.


autism spectrum disorder, zebra finch

description: Autism spectrum disorder that occurs in zebra finch.


name: Phelan-McDermid syndrome, crab-eating macaque

description: Phelan-McDermid syndrome that occurs in crab-eating macaque.


subvalvular aortic stenosis, dog

description: Subvalvular aortic stenosis that occurs in dog.


atherosclerosis, golden hamster

description: Atherosclerosis that occurs in golden hamster.


atherosclerosis, rock pigeon

description: Atherosclerosis that occurs in rock pigeon.


atherosclerosis, Japanese quail

description: Atherosclerosis that occurs in Japanese quail.


atherosclerosis, dog

description: Atherosclerosis that occurs in dog.


atherosclerosis, domestic cat

description: Atherosclerosis that occurs in domestic cat.


atherosclerosis, pig

description: Atherosclerosis that occurs in pig.


atrial septal defect, koala

description: Atrial septal defect that occurs in koala.


atrial septal defect, dog

description: Atrial septal defect that occurs in dog.


atrial septal defect, domestic cat

description: Atrial septal defect that occurs in domestic cat.


atrial septal defect, cattle

description: Atrial septal defect that occurs in cattle.


cardiomyopathy, golden hamster

description: Cardiomyopathy that occurs in golden hamster.


cardiomyopathy, salmonids

description: Cardiomyopathy that occurs in salmonids.


cardiomyopathy, chicken

description: Cardiomyopathy that occurs in chicken.


cardiomyopathy, hedgehogs

description: Cardiomyopathy that occurs in hedgehogs.


cardiomyopathy, dog

description: Cardiomyopathy that occurs in dog.


cardiomyopathy, domestic cat

description: Cardiomyopathy that occurs in domestic cat.


cardiomyopathy, cattle

description: Cardiomyopathy that occurs in cattle.


cardiomyopathy, goat

description: Cardiomyopathy that occurs in goat.


dilated cardiomyopathy, golden hamster

description: Dilated cardiomyopathy that occurs in golden hamster.


dilated cardiomyopathy, sea otter

description: Dilated cardiomyopathy that occurs in sea otter.


dilated cardiomyopathy, turkey

description: Dilated cardiomyopathy that occurs in turkey.


dilated cardiomyopathy, dog

description: Dilated cardiomyopathy that occurs in dog.


dilated cardiomyopathy, domestic cat

description: Dilated cardiomyopathy that occurs in domestic cat.


dilated cardiomyopathy, pig

description: Dilated cardiomyopathy that occurs in pig.


dilated cardiomyopathy, cattle

description: Dilated cardiomyopathy that occurs in cattle.


dilated cardiomyopathy, rabbit

description: Dilated cardiomyopathy that occurs in rabbit.


conotruncal heart malformations, dog

description: Conotruncal heart malformations that occurs in dog.


cor triatriatum dexter, dog

description: Cor triatriatum dexter that occurs in dog.


essential hypertension, dog

description: Essential hypertension that occurs in dog.


name: hypertrophic cardiomyopathy, woolly monkeys

description: Hypertrophic cardiomyopathy that occurs in woolly monkeys.