hereditary spastic paraplegia 52

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.


root resorption

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

description: Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)


classic congenital mesoblastic nephroma

description: A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.


microform holoprosencephaly

description: Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.


orofaciodigital syndrome III

description: Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.


temporal lobe epilepsy

description: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)


description: Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.


name: split-hand/foot malformation with long bone deficiency 1


pulmonary artery leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells.


pulmonary nodular lymphoid hyperplasia

description: Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.


environmental induced asthma

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


methemoglobin reductase deficiency

description: Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin.


vesicoureteral reflux 2

description: Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.


name: T-cell childhood acute lymphocytic leukemia

description: An acute lymphoblastic leukemia of T-cell origin occurring in children.


cardiac valvular dysplasia, X-linked

description: An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients.


name: Schistosoma japonicum infectious disease

description: An infection that is caused by Schistosoma japonicum.


herpes zoster with dermatitis of eyelid

description: A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.


melanotic medulloblastoma

description: A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.


name: autosomal dominant cerebellar ataxia type I

description: Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.


name: myopathy, centronuclear, 6, with fiber-type disproportion


drug-induced methemoglobinemia

description: Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).


name: congenital insensitivity to pain with hyperhidrosis


combined ApoA-I and ApoC-III deficiency

description: A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.


elephantiasis

description: Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.


noma

description: Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.


name: complete atrioventricular canal-ventricle hypoplasia syndrome


lymphatic malformation 4

description: Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.


ulnar hemimelia

description: Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.


name: severe phosphoribosylpyrophosphate synthetase superactivity

description: Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.


age related macular degeneration 6

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.


description: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.


name: autosomal recessive nonsyndromic hearing loss 124


name: fibrosis of extraocular muscles, congenital, 3c


name: isolated unilateral hemispheric cerebellar hypoplasia

description: Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.


retinitis pigmentosa 30

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.


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

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


name: lipodystrophy due to peptidic growth factors deficiency

description: Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).


endometrial type cervical adenomyoma

description: An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.


spitz nevus

description: A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.


German syndrome

description: German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.


description: A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.


CNGB1-related retinopathy

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


Foster-Kennedy syndrome

description: An eye disorder characterized by an insidious reduction in vision in one eye, accompanied by clinically significant papilledema in the fellow eye. The unilateral loss of vision and optic atrophy is due to compressive optic atrophy, which causes elevated intracranial pressure that leads to swelling in the fellow eye.


name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

description: Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.


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


name: Niemann-Pick disease type C, late infantile neurologic onset


name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3


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


fetal akinesia deformation sequence 2

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.


name: microphthalmia, isolated, with cataract 1


name: autosomal recessive nonsyndromic hearing loss 71

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.


name: benign familial nocturnal alternating hemiplegia of childhood

description: Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.


Reis-Bucklers corneal dystrophy

description: Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.


nephrotic syndrome, type 11

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.


name: microcephaly 28, primary, autosomal recessive


spindle cell oncocytoma

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


name: MELAS syndrome caused by mutation in MTTL1

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


hyper-IgE syndrome

description: A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.


pneumonic tularemia

description: A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.


drug psychosis

description: Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.


nasopharyngeal diphtheria

description: Infection of the nasopharynx by Corynebacterium diphtheriae.


form agnosia

description: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.


posterior cerebral artery infarction

description: Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).


nervous system neoplasm

description: A neoplasm (disease) that involves the nervous system.


name: mitochondrial DNA deletion syndrome with progressive myopathy


tetrasomy 21

description: Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.


cranioectodermal dysplasia 3

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.


name: immunodeficiency 113 with autoimmunity and autoinflammation


superficial epidermolytic ichthyosis

description: Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.


name: odontochondrodysplasia 2 with hearing loss and diabetes


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

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


name: MELAS syndrome caused by mutation in MTTS1

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


name: neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies


congenital contractural arachnodactyly

description: Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.


optic atrophy 11

description: Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.


spondyloarthropathy

description: A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.


name: arrhythmogenic cardiomyopathy with wooly hair and keratoderma

description: A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.


name: neuropathy, congenital hypomyelinating, 2


immunodeficiency 81

description: A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.


spermatogenic failure 11

description: Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.


name: encephalopathy due to beta-mercaptolactate-cysteine disulfiduria


upper limb mononeuronitis

description: A disease affecting a single peripheral nerve of the upper limb.


striated muscle rhabdoid tumor

description: A rhabdoid tumor that involves the striated muscle tissue.


name: inborn disorder of aspartate family metabolism

description: An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.


isolated aniridia

description: Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.


mixed-type autoimmune hemolytic anemia

description: Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.


benign conjunctival neoplasm

description: Abnormal growth of the cells of the conjunctiva without malignant characteristics.


Leber congenital amaurosis 7

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


mild phenylketonuria

description: Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.


name: short-rib thoracic dysplasia 19 with or without polydactyly


name: intellectual disability, autosomal recessive 52

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.


amyotrophic lateral sclerosis type 5

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.


name: developmental delay and seizures with or without movement abnormalities

description: DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).


mu-heavy chain disease

description: Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).


name: progressive familial heart block type II


name: congenital stationary night blindness 1D

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.


neoplasm of floor of mouth

description: A neoplasm (disease) that involves the mouth floor.


buccal mucosa neoplasm

description: A neoplasm (disease) that involves the buccal mucosa.


vulvar lichen sclerosus

description: A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.


name: RFT1-congenital disorder of glycosylation

description: RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).


cervical adenofibroma

description: A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements.


myosclerosis

description: Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.


Charcot-Marie-Tooth disease type 2R

description: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.


pre-malignant neoplasm

description: A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.


name: immunodeficiency due to ficolin3 deficiency


name: isolated partial cerebellar vermis agenesis


name: developmental and epileptic encephalopathy, 18


name: lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

description: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

description: A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.


cortisone reductase deficiency

description: A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.


benign peritoneal mesothelioma

description: A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent.


name: myeloid neoplasm associated with FGFR1 rearrangement

description: Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.


name: intellectual disability, autosomal recessive 9


name: non-syndromic X-linked intellectual disability

description: Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.


name: familial clubfoot with or without associated lower limb anomalies

description: Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.


Rickettsia parkeri spotted fever

description: A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.


meralgia paresthetica

description: Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.


description: Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.


Leber congenital amaurosis 10

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.


fibrodysplasia ossificans progressiva

description: Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.


description: X-linked form of spondyloepimetaphyseal dysplasia.


glanders

description: A condition resulting from infection by Burkholderia mallei, which mainly affects horses.


eyelid seborrheic keratosis

description: A seborrheic keratosis that involves the eyelid.


name: familial hemophagocytic lymphohistiocytosis 2

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.


epidemic louse-borne typhus

description: A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis.


calcifying epithelial odontogenic tumor

description: A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.


hemidystonia-hemiatrophy syndrome

description: Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.


name: neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities


name: spondyloepiphyseal dysplasia tarda, autosomal dominant

description: Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.


relapsing-remitting multiple sclerosis

description: The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)


monosomy 13q34

description: Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.


congenital bile acid synthesis defect 5

description: Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.


acral peeling skin syndrome

description: Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.


SNRNP200-related dominant retinopathy

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


female stress incontinence

description: The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause.


leiomyosarcoma of the cervix uteri

description: Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.


chromosome 13q14 deletion syndrome

description: Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.


name: acquired hemophagocytic lymphohistiocytosis associated with malignant disease


PHACE syndrome

description: PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.


barbiturate dependence

description: A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.


manganese poisoning

description: Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)


name: autosomal recessive myogenic arthrogryposis multiplex congenita

description: Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.


Hao-Fountain syndrome

description: A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus).


name: neuronopathy, distal hereditary motor, type 2B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.


name: dyskeratosis congenita, autosomal recessive 3

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.


cranioectodermal dysplasia

description: Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).


name: DPM3-congenital disorder of glycosylation

description: DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.


paragonimiasis

description: A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.


synaptopathy

description: A disease caused by dysfunction of synapses.


7p22.1 microduplication syndrome

description: 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.


Siegler-Brewer-Carey syndrome

description: Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.


name: congenital myopathy 4A, autosomal dominant


Tatton-Brown-Rahman overgrowth syndrome

description: A rare multiple congenital anomalies syndrome characterized by greater height, mild to moderate intellectual disability and distinctive facial appearance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.


trichoodontoonychial dysplasia

description: Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.


hypotrichosis simplex of the scalp

description: Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.


Achondroplasia

description: Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.


name: glutamate pyruvate transaminase 2 deficiency


name: acromesomelic dysplasia 2C, Hunter-Thompson type

description: Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.


spinocerebellar ataxia type 30

description: Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.


platelet-type bleeding disorder 20

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.


hemochromatosis type 4

description: A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.


name: X-linked intellectual disability with isolated growth hormone deficiency


name: balanced Robertsonian translocation Down syndrome

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


name: inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

description: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.


Rosselli-Gulienetti syndrome

description: A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene


name: basal ganglia calcification, idiopathic, 6

description: Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.


hereditary spastic paraplegia 73

description: Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.


name: B acute lymphoblastic leukemia with DUX4 rearrangement

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


adult-onset citrullinemia type I

description: Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.


hereditary mucoepithelial dysplasia

description: A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.


non-human animal disease

description: A disease that occurs in animals.


von Willebrand disease type 2N

description: Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).


serpiginous choroiditis

description: Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.


name: straddling or overriding tricuspid valve

description: Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.


name: epidermolysis bullosa simplex 2B, generalized intermediate


pilosebaceous hamartoma

description: A hamartoma characterized by localized pilosebaceous apparatus malformation.


name: developmental and epileptic encephalopathy, 85, with or without midline brain defects


carnosinemia

description: Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.


urethra cancer

description: A malignant neoplasm involving the urethra


testicular Leydig cell tumor

description: A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.


X-linked myotubular myopathy

description: A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.


Cowden syndrome 7

description: Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.


CNGA3-related retinopathy

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


split hand-foot malformation 4

description: Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.


neuronal intranuclear inclusion disease

description: Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.


auriculoosteodysplasia

description: Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.


name: ichthyosis, lamellar, autosomal dominant


benign urethral neoplasm

description: Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics.


name: punctate palmoplantar keratoderma type 1

description: Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..


description: Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.


name: round cell sarcoma with EWSR1-PATZ1 gene fusion

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


oculopharyngodistal myopathy

description: Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.


pulmonary hypertension, primary, 3

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.


name: chondrodysplasia with joint dislocations, gPAPP type


name: qualitative or quantitative defects of nebulin


autosomal recessive osteopetrosis 7

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.


dengue shock syndrome

description: A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.


encircling double aortic arch

description: Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.


hematocele of tunica vaginalis testis

description: Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele.


name: postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

description: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.


renal leiomyoma

description: A leiomyoma that involves the kidney.


tuberculous salpingitis

description: An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.


congenital myasthenic syndrome 17

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.


choriocarcinoma of testis

description: A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.


name: peroxisome biogenesis disorder due to PEX7 defect

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


micturation-induced seizures

description: Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.


name: pigmented nodular adrenocortical disease, primary, 4

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


keratosis pilaris atrophicans faciei

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


name: microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma


ANE syndrome

description: ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.


autosomal dominant hypocalcemia

description: Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria.


autosomal dominant osteopetrosis

description: Autosomal dominant form of osteopetrosis (disease).


Jeavons syndrome

description: Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.


name: autosomal recessive spastic paraplegia type 60


Eiken syndrome

description: Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.


Weismann-Netter syndrome

description: Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.


name: autosomal recessive spinocerebellar ataxia 13

description: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.


cancer of long bone of lower limb

description: A cancer that involves the hindlimb long bone.


5q14.3 microdeletion syndrome

description: The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.


Wolfram-like syndrome

description: Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.


Pai syndrome

description: Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.


atopic IgE-mediated allergic disorder

description: A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.


Temple-Baraitser syndrome

description: A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.


idiopathic recurrent pericarditis

description: A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.


name: bacterial meningitis caused by gram-negative bacteria


name: Stickler syndrome, type I, nonsyndromic ocular


name: autosomal recessive nonsyndromic hearing loss 84A

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


non-amyloid fibrillary glomerulopathy

description: Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases.


name: microphthalmia, isolated, with coloboma 7

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.


name: renal hypomagnesemia 5 with ocular involvement

description: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.


aortitis

description: Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.


T2-low asthma

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


name: autosomal recessive dyskeratosis congenita 4

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.


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


name: autosomal recessive nonsyndromic hearing loss 18B

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


name: adrenocortical unresponsiveness to ACTH with postreceptor defect


musculoskeletal system cancer

description: A malignant neoplasm involving the musculoskeletal system


name: global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

description: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).


cranial nerve neoplasm

description: Abnormal growth of the cells that comprise the cranial nerves.


filariasis

description: A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.


intermediate cell type iris melanoma

description: Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


Oropouche fever

description: A disease caused by infection with Oropouche virus.


cerebritis

description: Inflammation of the cerebrum.


integumentary system cancer

description: A malignant neoplasm involving the integumental system


benign neoplasm of subglottis

description: A benign neoplasm that involves the subglottis.


name: generalized epilepsy with febrile seizures plus, type 7

description: Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.


vitamin D-dependent rickets, type 2B

description: Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.


chronic neutrophilic leukemia

description: A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.


name: childhood testicular mixed embryonal carcinoma and teratoma

description: A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.


name: autosomal dominant limb-girdle muscular dystrophy type 1G

description: Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.


name: peroxisome biogenesis disorder 6A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6A manifests phenotypically as Zellweger syndrome.


name: ectodermal dysplasia alopecia preaxial polydactyly


nephrotic syndrome, type 9

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.


meningeal tuberculosis

description: A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis.


acute epiglottitis

description: Acute form of epiglottitis.


name: spondyloepiphyseal dysplasia tarda with characteristic facies


name: testicular non-seminomatous germ cell cancer

description: A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.


name: progressive supranuclear palsy-pure akinesia with gait freezing syndrome

description: PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.


name: infantile onset panniculitis with uveitis and systemic granulomatosis


Cestode infectious disease

description: Infections with true tapeworms of the helminth subclass Cestoda.


spirochaetales infections

description: Infections with bacteria of the order SPIROCHAETALES.


name: collagen 6-related congenital muscular dystrophy


aortic valve disease 3

description: Any aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve in which the cause of the disease is a mutation in the ROBO4 gene.


hereditary spherocytosis type 2

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


steroid metabolism disease

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


post-infectious disorder

description: A disorder that follows infection but is distinct from the infection itself and its usual manifestations.


name: immunodeficiency 98 with autoinflammation, X-linked

description: An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.


eosinophil disorder

description: A disease or disorder that involves the eosinophil.


alcoholic polyneuropathy

description: Any disease affecting more than one nerve.


inborn disorder of porphyrin metabolism

description: An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.


name: autosomal dominant limb-girdle muscular dystrophy type 1E (DES)

description: Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.


indeterminate leprosy

description: A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.


name: intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

description: IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).


MYPN-related myopathy

description: Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.


name: autosomal recessive nonsyndromic hearing loss 48

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.


Kennedy disease

description: Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.


juvenile Huntington disease

description: Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.


acrofacial dysostosis, Palagonia type

description: Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.


name: combined oxidative phosphorylation defect type 11

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.


RAB18 deficiency

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


congenital heart block

description: Heart block that occurs on or before 28 days of life.


impaired renal function disease

description: Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.


carotenemia

description: Increased serum carotenoids.


nongerminomatous germ cell tumor

description: A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.


congenital factor VII deficiency

description: Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.


name: epidermolysis bullosa simplex with anodontia/hypodontia


glandular cystitis

description: A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.


spinocerebellar ataxia type 28

description: Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.


hemoglobin C-beta-thalassemia syndrome

description: Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.


name: neurodevelopmental disorder with central hypotonia and dysmorphic facies


neonatal candidiasis

description: A fungal infection by any of the Candida species in a newborn infant up to 28 days old.


name: spinocerebellar ataxia, autosomal recessive 26


Tangier disease

description: Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.


visual cortex disorder

description: A disease involving the visual cortex.


ocular toxoplasmosis

description: Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.


name: keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

description: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.


adrenal gland myelolipoma

description: A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.


name: autosomal recessive epidermolytic ichthyosis


name: developmental and epileptic encephalopathy 106


vasculitis, lymphocytic, nodular

description: Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.


name: total circumpapillary dystrophy of choroid


name: developmental and epileptic encephalopathy, 72


retinitis pigmentosa 51

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.


pericardial tuberculosis

description: Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.


vascular brain injury

description: Damage to the blood vessels of the brain


craniodiaphyseal dysplasia

description: Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.


diphyllobothriasis

description: Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells).


name: inborn mitochondrial metabolism disorder

description: Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.


Melhem-Fahl syndrome

description: Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.


name: renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss


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

description: Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.


name: neurodevelopmental disorder with language delay and variable cognitive abnormalities


name: autosomal dominant complex spastic paraplegia type 9B


nemaline myopathy 10

description: Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.


name: spondyloepimetaphyseal dysplasia, Isidor type


lissencephaly 4

description: Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.


neurovascular disorder

description: A disorder of the nervous system related to a vascular etiology.


thyrotoxic periodic paralysis

description: Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.


hypoglossal nerve neoplasm

description: A neoplasm involving a hypoglossal nerve.


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

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


name: Charcot-Marie-Tooth disease recessive intermediate B

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.


name: MME-related autosomal dominant Charcot Marie Tooth disease type 2


name: mitochondrial complex 4 deficiency, nuclear type 15


acrofacial dysostosis Cincinnati type

description: Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.


description: A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.


parapsoriasis

description: Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids.


Warburg micro syndrome 2

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.


jugular foramen meningioma

description: A meningioma that affects the jugular foramen.


Alzheimer disease 19

description: Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.


asphyxiating thoracic dystrophy 1

description: An asphyxiating thoracic dystrophy associated with variation in the region 15q13.


name: autosomal dominant nonsyndromic hearing loss 51

description: An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.


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


name: uterine corpus perivascular epithelioid cell tumor

description: A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.


name: isolated growth hormone deficiency type IB

description: An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.


contact dermatitis due to nickel

description: A form of allergic contact dermatitis that results from exposure to nickel


name: syndromic X-linked intellectual disability Snyder type

description: Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.


name: immunodeficiency 109 with lymphoproliferation


name: combined oxidative phosphorylation deficiency 44


arterial thoracic outlet syndrome

description: Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.


schizophrenia 8

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.


name: ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

description: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.


name: neurodevelopmental disorder with infantile epileptic spasms


coxoauricular syndrome

description: Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.


name: severe achondroplasia-developmental delay-acanthosis nigricans syndrome

description: A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).


chromosome 17p13.3 duplication syndrome

description: 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.


adult acne

description: Acne that occurs in an adult.


isolated cleft lip

description: Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.


smooth muscle tumor

description: A benign or malignant myomatous neoplasm arising from smooth muscle.


pediatric extraocular retinoblastoma

description: Retinoblastoma during childhood that has spread beyond the eye.


polyradiculopathy

description: A radiculopathy that is present in more than one nerve.


name: corticosterone methyloxidase type 1 deficiency


Binder syndrome

description: A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.


name: neurodevelopmental disorder with cerebellar atrophy and motor dysfunction


radio-renal syndrome

description: Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.


name: autosomal dominant Charcot-Marie-Tooth disease type 2M

description: Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.


name: inborn disorder of lysosomal amino acid transport


name: hearing loss, sensorineural, autosomal-mitochondrial type


Phelan-McDermid syndrome

description: Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.


childhood malignant neoplasm

description: A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).


name: myopathy, congenital, progressive, with scoliosis


name: benign partial epilepsy of infancy with complex partial seizures

description: Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.


name: muscular dystrophy, limb-girdle, autosomal recessive 27


psammomatous meningioma

description: A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.


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


name: chromosome 22q11.2 deletion syndrome, distal

description: Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.


name: mitochondrial complex 1 deficiency, nuclear type 9


nephronophthisis 15

description: Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.


multiple synostoses syndrome

description: Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.


name: synchronous multifocal osteogenic sarcoma

description: A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.


name: ataxia-telangiectasia with generalized skin pigmentation and early death


chromosome 16p13.3 duplication syndrome

description: 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.


osteogenesis imperfecta type 14

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.


spermatogenic failure 13

description: Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.


alcohol-related disorders

description: Disorders related to or resulting from abuse or mis-use of alcohol.


name: acute myeloid leukemia, FLT3 internal tandem duplication

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


name: combined oxidative phosphorylation deficiency 55


acute salpingitis

description: Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.


name: microcephaly 14, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.


choroid cancer

description: A malignant neoplasm involving the optic choroid.


name: ceroid lipofuscinosis, neuronal, 4 (Kufs type)

description: A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


name: autosomal recessive combined immunodeficiency due to IL6R deficiency


name: omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome


necrobiosis lipoidica

description: Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.