name: acute myeloid leukemia, CEBPA gene mutation

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


Ackerman syndrome

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

description: Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.


aglossia and situs inversus

description: A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs.


name: distal myopathy with vocal cord weakness

description: Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.


tetramelic monodactyly

description: Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.


name: intellectual disability, autosomal dominant 3

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.


classic medulloblastoma

description: Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.


name: ketoacidosis due to monocarboxylate transporter-1 deficiency


peroneal nerve paralysis

description: Paralysis of the nerves located in the legs.


Liddle syndrome 1

description: Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.


name: combined oxidative phosphorylation deficiency 42


Arterivirus infectious disease

description: Infections caused by viruses of the family arteriviridae.


metachromatic leukodystrophy

description: A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.


herpetiform pemphigus

description: Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.


name: brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability


description: Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.


nemaline myopathy 7

description: Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.


fascioloidiasis

description: Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.


name: congenital alveolar dysplasia due to TBX4

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


name: developmental and epileptic encephalopathy 110


branchiootic syndrome 3

description: Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.


Leydig cell hypoplasia, type 1

description: Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.


intellectual disability, X-linked 101

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.


name: epidermolysis bullosa simplex 1A, generalized severe

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.


locked-in syndrome

description: Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.


myopathy caused by variation in FKRP

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


name: toxic maculopathy due to antimalarial drugs

description: Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.


lumbar plexus neoplasm

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


benign teratoma

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


name: developmental and epileptic encephalopathy 109


pestivirus infectious disease

description: Infections with viruses of the genus pestivirus, family flaviviridae.


vaginal rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.


specific granule deficiency 1

description: Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.


name: congenital stationary night blindness 1H

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.


name: mitochondrial complex 1 deficiency, nuclear type 25


elastoderma

description: Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.


name: multiple congenital anomalies/dysmorphic syndrome


name: herpes simplex type 2 infectious disease

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


name: transient congenital hypothyroidism due to maternal factor


name: craniosynostosis with ocular abnormalities and hallucal defects


composite lymphoma

description: Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.


acute maxillary sinusitis

description: Acute form of maxillary sinusitis.


name: autosomal recessive ataxia due to PEX10 deficiency


name: autosomal recessive limb-girdle muscular dystrophy

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


hemoglobin E-beta-thalassemia syndrome

description: Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.


Bardet-Biedl syndrome 2

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.


immunodeficiency, common variable, 6

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.


name: spondyloepimetaphyseal dysplasia, Bieganski type

description: A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.


chronic gingivitis

description: Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.


adult-onset nemaline myopathy

description: Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.


cylindrical spirals myopathy

description: Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.


ligneous conjunctivitis

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


16q24.3 microdeletion syndrome

description: 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.


name: microphthalmia, isolated, with coloboma 10

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.


multiple synostoses syndrome 1

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.


autosomal dominant spastic ataxia

description: Autosomal dominant form of spastic ataxia.


focal facial dermal dysplasia type IV

description: Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.


cerebral cavernous malformation

description: A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.


name: ovarian cancer, familial, susceptibility to, 1


familial idiopathic torsion dystonia

description: An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.


name: central sleep apnea caused by high altitude


name: spondylocostal dysostosis 2, autosomal recessive


juxtaposition of the atrial appendages

description: Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.


name: atypical pantothenate kinase-associated neurodegeneration


name: facial paresis, hereditary congenital, 3

description: Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.


myoclonic cerebellar dyssynergia

description: A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)


name: familial apolipoprotein gene cluster deletion syndrome


staphylococcal necrotizing pneumonia

description: Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.


name: ectodermal dysplasia with intellectual disability and syndactyly


name: prostatic malacoplakia associated with prostatic abscess


creatine biosynthetic process disease

description: A disease that has its basis in the disruption of creatine biosynthetic process.


dipetalonemiasis

description: A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.


name: autosomal dominant combined immunodeficiency due to ERBIN deficiency


name: Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1


conjunctival nevus

description: A benign melanocytic neoplasm that arises from the conjunctiva.


mouth disorder, non-human animal

description: Mouth disorder that occurs in non-human animals.


sulfur metabolism disease

description: A disease that has its basis in the disruption of sulfur compound metabolic process.


name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis


vernal conjunctivitis

description: Inflammation of the cornea that is seasonal in nature.


psychogenic movement disorders

description: Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.


name: scleromyxedema without monoclonal gammopathy

description: Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.


paragangliomas 3

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.


name: ectopia lentis-chorioretinal dystrophy-myopia syndrome

description: Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.


retinitis pigmentosa 69

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


isolated microphthalmia 2

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


name: spastic paraparesis-cataracts-speech delay syndrome


hypomyelinating leukodystrophy 13

description: Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.


name: ectodermal dysplasia 13, hair/tooth type


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

description: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.


foot rot

description: A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)


spinocerebellar ataxia type 11

description: Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.


name: Pasteurella multocida infectious disease


name: primary cutaneous peripheral T-cell lymphoma not otherwise specified


name: lethal occipital encephalocele-skeletal dysplasia syndrome

description: Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.


chemotherapy-induced alopecia

description: Hair loss as a result of chemotherapy treatment.


primary ciliary dyskinesia 35

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.


nasal cavity lymphoma

description: A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.


brachyolmia

description: Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.


Sengers syndrome

description: Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.


lipodermatosclerosis

description: Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.


name: myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay


non-syndromic polydactyly

description: A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.


Newcastle disease

description: A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.


Bardet-Biedl syndrome 22

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.


familial cutaneous collagenoma

description: Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.


Joubert syndrome 27

description: Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.


varicella zoster infection

description: A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.


DKC1-related disorder

description: Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.


name: congenital nonspherocytic hemolytic anemia

description: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.


familial pseudohyperkalemia

description: An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.


IgG4-related ophthalmic disorder

description: A IgG4-related disease that involves the eye.


Singleton-Merten syndrome 2

description: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.


Melnick-Needles syndrome

description: A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.


name: extraoral halitosis due to methanethiol oxidase deficiency


name: lymphedema-atrial septal defects-facial changes syndrome

description: Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.


medulloblastoma WNT activated

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


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


name: palmoplantar keratoderma i, striate, focal, or diffuse


chancre

description: The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.


male genital tuberculosis

description: Mycobacterium infections of the male reproductive tract (genitalia, male).


acute myeloid leukemia with BCR-ABL1

description: A rare, de novo acute myeloid leukemia in which the blasts harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.


name: autosomal recessive nonsyndromic hearing loss 91

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.


hereditary cerebellar ataxia

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


name: autosomal recessive nonsyndromic hearing loss 16

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


Charcot-Marie-Tooth disease type 2B1

description: Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.


neurogenic thoracic outlet syndrome

description: Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.


name: immunodeficiency due to MASP-2 deficiency

description: Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.


Aicardi-Goutieres syndrome 8

description: A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.


complex neurodevelopmental disorder

description: A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).


adult acute lymphoblastic leukemia

description: An acute lymphoblastic leukemia occurring during adulthood.


aggressive NK-cell leukemia

description: A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen.


name: peroxisome biogenesis disorder, complementation group K


autosomal dominant osteopetrosis 2

description: A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).


premature ovarian failure 2A

description: Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.


name: keratosis follicularis spinulosa decalvans, X-linked


name: peroxisome biogenesis disorder due to PEX16 defect

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


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


autosomal dominant omodysplasia

description: Autosomal dominant form of omodysplasia.


oxoglutaricaciduria

description: Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.


name: splenogonadal fusion-limb defects-micrognathia syndrome

description: Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.


upper respiratory tract disorder

description: A disease involving the upper respiratory tract.


name: Charcot-Marie-Tooth disease with ptosis and parkinsonism


name: partial duplication of the short arm of chromosome 6

description: Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.


name: non-specific autoimmune brainstem encephalitis with characteristic antibodies


name: developmental and epileptic encephalopathy, 87


name: partial duplication of the long arm of chromosome 6

description: Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.


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


placental site trophoblastic tumor

description: Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.


name: chromosome 17P13.3, telomeric, duplication syndrome


name: progressive pseudorheumatoid arthropathy of childhood

description: Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.


atrial fibrillation, familial, 4

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.


name: pulmonary hypertension, primary, autosomal recessive


manic bipolar affective disorder

description: The manic phase of bipolar disorder.


sporadic Creutzfeldt-Jakob disease

description: Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD).


chromosome 21 disorder

description: Chromosomal disorder in which chromosome 21 is affected.


name: glycogen storage disease type 1 due to SLC37A4 mutation

description: Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.


Cockayne syndrome type 3

description: Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.


name: situs inversus totalis with cystic dysplasia of kidneys and pancreas


name: hemolytic poikilocytic anemia due to reduced ankyrin binding sites


name: hypoalphalipoproteinemia, primary, 2, intermediate


progressive myoclonic epilepsy type 7

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.


eumycotic mycetoma

description: A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.


name: intellectual developmental disorder 60 with seizures


Coffin-Siris syndrome 6

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.


amyotrophic lateral sclerosis type 6

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


dyschondrosteosis-nephritis syndrome

description: Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.


name: spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

description: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.


Bardet-Biedl syndrome 18

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.


peroxisome biogenesis disorder 1B

description: An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


sacrum chordoma

description: A chordoma (disease) that involves the fused sacrum.


autosomal dominant Robinow syndrome 3

description: Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.


name: developmental and epileptic encephalopathy, 65

description: An autosomal dominant form of developmental and epileptic encephalopathy, caused by mutation(s) in the CYFIP2 gene, encoding cytoplasmic FMR1-interacting protein 2.


name: SLC35A2-congenital disorder of glycosylation

description: SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).


name: febrile ulceronecrotic Mucha-Habermann disease

description: Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.


desmoplastic/nodular medulloblastoma

description: A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.


stiff skin syndrome

description: A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.


name: peroxisome biogenesis disorder due to PEX3 defect

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


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

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


atrial fibrillation, familial, 12

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.


tamoxifen-related endometrial lesion

description: A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.


name: thrombophilia, familial, due to decreased release of tissue plasminogen activator


name: glycosylphosphatidylinositol biosynthesis defect 25


name: autosomal dominant nonsyndromic hearing loss 2A

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.


LCAT deficiency

description: LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.


hereditary spastic paraplegia 61

description: A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.


malignant essential hypertension

description: Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.


recurrent idiopathic neuroretinitis

description: A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disk edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.


name: autosomal recessive nonsyndromic hearing loss 103

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.


primary lymphedema

description: A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.


name: corticosteroid-sensitive aseptic abscess syndrome

description: Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.


PRPF8-related retinopathy

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


name: cryptosporidiosis-chronic cholangitis-liver disease syndrome


name: corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome


neurotrophic keratopathy

description: Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.


spinal polio

description: A paralytic poliomyelitis in which the site of paralysis is the spinal cord.


description: Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.


atheroembolism of kidney

description: A cholesterol embolism that involves the kidney.


reactive airway disease

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


name: autosomal recessive spinocerebellar ataxia 14

description: Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).


eosinophil peroxidase deficiency

description: A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.


name: autosomal recessive spastic paraplegia type 59


name: mitochondrial complex 1 deficiency, nuclear type 26


atypical Werner syndrome

description: A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.


Prieto syndrome

description: This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.


non-atopic asthma

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


name: autosomal recessive nonsyndromic hearing loss 98

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


name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome


name: celiac disease-epilepsy-cerebral calcification syndrome

description: Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.


name: female infertility due to oocyte meiotic arrest


name: acute megakaryoblastic leukemia in down syndrome


polydactyly-myopia syndrome

description: Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.


3M syndrome 2

description: Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.


name: developmental delay, dysmorphic facies, and brain anomalies


fetal iodine syndrome

description: Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).


name: ALG1-congenital disorder of glycosylation

description: A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).


Newfoundland cone-rod dystrophy

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency


name: craniosynostosis-intellectual disability syndrome of 51N and Gettig


Stickler syndrome, type 5

description: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.


alkaptonuria

description: A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).


name: intellectual disability, autosomal recessive 4


name: X-linked intellectual disability, Stocco dos Santos type


name: hereditary breast ovarian cancer syndrome

description: An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.


name: hypohidrosis with abnormal palmar dermal Ridges


name: Friedreich ataxia and congenital glaucoma


pseudounicornuate uterus

description: Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.


primary hypertrophic osteoarthropathy

description: A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.


osteogenesis imperfecta type 2

description: Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.


Hendra virus infection

description: Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.


name: microcephaly, growth restriction and increased sister chromatid exchange


neutrophil immunodeficiency syndrome

description: A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.


FG syndrome 4

description: Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.


genitopatellar syndrome

description: Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.


name: psychomotor retardation, epilepsy, and craniofacial dysmorphism


description: X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.


name: immunodeficiency 65, susceptibility to viral infections


acetazolamide-responsive myotonia

description: Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).


primary ciliary dyskinesia 7

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.


hereditary otorhinolaryngologic disease

description: An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.


papular xanthoma

description: Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.


name: metachromatic leukodystrophy due to saposin B deficiency


otospondylomegaepiphyseal dysplasia

description: An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.


description: Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).


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


name: neuronopathy, distal hereditary motor, autosomal recessive 7


name: congenital pulmonary veins atresia or stenosis

description: Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.


name: disorder of lectin complement activation pathway

description: A disease that has its basis in the disruption of complement activation, lectin pathway.


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

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


malignant peritoneal mesothelioma

description: An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.


malignant adenoma

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


isolated microphthalmia 5

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.


atrial fibrillation, familial, 6

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


name: acquired carbohydrate metabolism disease

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


leukonychia totalis

description: Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.


Enterococcus faecalis infection

description: A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.


avascular necrosis

description: Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.


elliptocytosis 2

description: Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.


name: intellectual disability, autosomal recessive 12


sclerosteosis 2

description: Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.


Steel syndrome

description: A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.


neonatal alloimmune neutropenia

description: A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.


name: spastic paraplegia 90B, autosomal recessive


malignant cranial nerve neoplasm

description: Abnormal malignant growth of the cells that comprise the cranial nerve.


name: segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

description: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.


name: combined oxidative phosphorylation deficiency 33

description: An autosomal recessive condition caused by mutation(s) in the C1QBP gene, encoding complement component 1 Q subcomponent-binding protein, mitochondrial. The phenotype is highly variable.


choroideremia hypopituitarism

description: This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.


atrial septal defect 5

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.


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

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


name: neurogenic scapuloperoneal syndrome, Kaeser type


pemphigoid

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


name: ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia


name: adenosine monophosphate deaminase deficiency

description: Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.


Stormorken syndrome

description: Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.


name: spondyloepiphyseal dysplasia tarda, Kohn type

description: Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.


osteogenesis imperfecta type 15

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.


name: mitochondrial complex 4 deficiency, nuclear type 19


name: endocrine system disorder, non-human animal

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


hemochromatosis type 3

description: Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.


name: autosomal recessive nonsyndromic hearing loss 96

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.


encephalitozoonosis

description: Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.


congenital myasthenic syndrome 21

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.


syphilitic encephalitis

description: An encephalitis caused by infection with Treponema.


stromal predominant kidney Wilms tumor

description: Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.


name: muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

description: This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.


ureteral lymphoma

description: A lymphoma that involves the ureter.


name: pilodental dysplasia-refractive errors syndrome

description: Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.


name: myopathy, lactic acidosis, and sideroblastic anemia

description: Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy.


name: reticular dystrophy of the retinal pigment epithelium

description: Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.


description: Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.


name: benign childhood occipital epilepsy, Panayiotopoulos type

description: A rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.


name: spastic paraplegia 90A, autosomal dominant


congenital bile acid synthesis defect 2

description: Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.


Singleton-Merten syndrome 1

description: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.


Grayson-Wilbrandt corneal dystrophy

description: Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.


CHIME syndrome

description: CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.


adult neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.


name: F12-associated cold autoinflammatory syndrome


canine hemangiosarcoma

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


cyclic vomiting syndrome

description: A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting.


hydrolethalus syndrome

description: Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.


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


hereditary spastic paraplegia 31

description: A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.


description: A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.


name: strictly posterior acute myocardial infarction


description: A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.


name: neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

description: Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.


postinfectious vasculitis

description: Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.


AIPL1-related retinopathy

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


name: dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities


spastic ataxia 7

description: Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.


name: amyloidosis of gingiva and conjunctiva, with intellectual disability


kidney lipoma

description: A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.


name: neurodevelopmental disorder with hypotonia and brain abnormalities


mosaic trisomy 7

description: Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.


name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

description: Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.


familial primary hypomagnesemia

description: A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.


proliferating trichilemmal cyst

description: Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.


name: amelogenesis imperfecta hypomaturation type 2A5

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.


gonadal tissue neoplasm

description: Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.


Aloi Tomasini Isaia syndrome

description: A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: platelet responsiveness to adrenaline, depressed


name: degeneration of macula and posterior pole


name: microcephaly 4, primary, autosomal recessive


complex sleep apnea

description: A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.


name: seborrhea-like dermatitis with psoriasiform elements


pulmonary hypertension, neonatal

description: Abnormally high blood pressure in a newborn child.


childhood medulloblastoma

description: A medulloblastoma occurring in children.


name: X-linked recessive mitochondrial myopathy

description: A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.


Lyell syndrome

description: Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.


name: cleft palate with or without ankyloglossia, X-linked

description: X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.


name: intellectual disability, autosomal recessive 59

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.


annular constricting bands

description: A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand.


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


description: Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.


self-healing collodion baby

description: Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.


benign vaginal mixed tumor

description: A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.


name: isolated growth hormone deficiency, type 4


name: peripheral motor neuropathy-dysautonomia syndrome

description: Peripheral motor neuropathy-dysautonomia syndrome is characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.


Catel-Manzke syndrome

description: Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.


name: linear skin defects with multiple congenital anomalies 3

description: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.


metaphyseal anadysplasia 2

description: Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.


Joubert syndrome 25

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.


cervical alveolar soft part sarcoma

description: An alveolar soft part sarcoma arising from the cervix.


focal myositis

description: Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.


benign neoplasm of renal pelvis

description: A benign neoplasm that involves the renal pelvis.


classic pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.


name: muscular dystrophy-dystroglycanopathy, type B


nephrogenic adenoma of the urethra

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


name: non-syndromic bicoronal and sagittal craniosynostosis


name: intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration


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

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


name: partial deletion of the long arm of chromosome 7

description: Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


Wildervanck syndrome

description: Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.


name: neurodevelopmental disorder with speech delay and variable ocular anomalies


name: pseudoxanthoma elasticum-like papillary dermal elastolysis

description: Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.


name: combined oxidative phosphorylation deficiency 22


hereditary spastic paraplegia 64

description: An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.


name: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

description: Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.


name: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion


seizures, benign familial infantile, 5

description: Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.


amyotrophic lateral sclerosis type 21

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.


toxin-mediated infectious botulism

description: Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).


canine transitional cell carcinoma

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


name: rhizomelic chondrodysplasia punctata type 2

description: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.


name: secondary central precocious puberty in male


name: lethal arteriopathy syndrome due to fibulin-4 deficiency


isolated spina bifida

description: A spina bifida (disease) that is not part of a larger syndrome.


name: short stature, microcephaly, and endocrine dysfunction


name: autosomal dominant nonsyndromic hearing loss 64

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


name: proteasome-associated autoinflammatory syndrome 5


isolated congenital megalocornea

description: Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.


name: fibula, recurrent dislocation of head of


name: furuncular myiasis due to Cordylobia anthropophaga


name: COG7-congenital disorder of glycosylation

description: COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.


name: mesomelic dwarfism of hypoplastic tibia and radius type


primary motor cortex epilepsy

description: A epilepsy that involves the primary motor cortex.


name: intellectual developmental disorder with speech delay, autism, and dysmorphic facies


cone-rod dystrophy 17

description: A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.


name: intellectual disability-brachydactyly-Pierre Robin syndrome

description: Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.


name: neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia


name: partial deletion of the long arm of chromosome 16


hereditary lipodystrophy

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


mastocytoma

description: A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.


KIF7-related ciliopathy

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


name: intellectual disability, autosomal dominant 34

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.


16p13.11 microduplication syndrome

description: 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.


venom allergy

description: An allergic disease involving venom.


name: primary tuberculosis of the digestive system


name: microcephaly 15, primary, autosomal recessive


Chandler syndrome

description: Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.


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.


name: malignant pleural solitary fibrous tumor

description: A malignant form of pleural solitary fibrous tumor.


benign neoplasm

description: A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites.


neoplasm of neck

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


name: absence deformity of leg-cataract syndrome

description: Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.


name: non-syndromic congenital bronchial atresia


arenavirus hemorrhagic fever

description: A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.


refeeding syndrome

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


disorder of protein O-glycosylation

description: A disease that has its basis in the disruption of protein O-linked glycosylation.


name: autosomal dominant centronuclear myopathy

description: An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.


name: spastic paraplegia 83, autosomal recessive


name: autosomal recessive humeroradial synostosis

description: Autosomal recessive form of humeroradial synostosis (disease).


primary ciliary dyskinesia 17

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.


name: neuropathy, hereditary sensory and autonomic, type 1A

description: An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.


athyreotic congenital hypothyroidism

description: Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)


Leber congenital amaurosis 14

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene.


name: progressive encephalopathy with leukodystrophy due to DECR deficiency

description: Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.


PrP systemic amyloidosis

description: Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.


benign neoplasm of sublingual gland

description: A benign neoplasm that involves the sublingual gland.


persistent placoid maculopathy

description: Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.


atrial fibrillation, familial, 14

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.


ring chromosome 3

description: Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.


renal pelvis neoplasm

description: A neoplasm (disease) that involves the renal pelvis.


name: congenital heart defects, multiple types, 4

description: Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.


cerebral cavernous malformation 3

description: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.


chondroid hamartoma

description: A hamartoma that is characterized by the presence of chondroid elements.


LCA5-related retinopathy

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


mitochondrial DNA depletion syndrome 9

description: Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3


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

description: Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.


name: acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

description: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.


name: intrinsic factor and r binder, combined congenital deficiency of


nephropathic infantile cystinosis

description: Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.


name: developmental and epileptic encephalopathy, 64


focal segmental glomerulosclerosis 5

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.


Brucella melitensis brucellosis

description: A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.


immunodeficiency 35

description: Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.


tooth agenesis, selective, 1

description: Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.


name: cerebral sclerosis, diffuse, scholz type


benign uterine ligament neoplasm

description: A non-metastasizing neoplasm that arises from the uterine ligament.


name: idiopathic steroid-sensitive nephrotic syndrome with minimal change


name: developmental and epileptic encephalopathy, 66

description: An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the PACS2 gene, encoding phosphofurin acidic cluster sorting protein 2.


name: immune reconstitution inflammatory syndrome

description: An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.


name: periventricular heterotopia with microcephaly, autosomal recessive


chromosome 5q12 deletion syndrome

description: PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.


name: central nervous system mesenchymal non-meningothelial tumor

description: A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)


pseudohyperaldosteronism type 2

description: Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.


name: epithelial squamous dysplasia, keratinizing desquamative, of urinary tract


hereditary spherocytosis type 1

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.


achromatopsia 4

description: Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.