laryngeal sarcoma

description: A rare malignant soft tissue neoplasm that arises from the larynx.


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

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

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


amyloidosis bronchopulmonary

description: Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses.


cervix disorder

description: A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.


name: chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant


name: congenital hypothyroidism due to maternal intake of antithyroid drugs


name: salivary substance, Clostridium botulinum type


hepatitis, viral, animal

description: Inflammation of the liver in animals due to viral infection.


Ballard syndrome

description: Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.


suppurative thyroiditis

description: Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis.


name: indeterminate sex and/or pseudohermaphroditism


name: childhood-onset autosomal recessive myopathy with external ophthalmoplegia


tinea manuum

description: A dermatophytosis that involves the hands.


syringoma

description: A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis.


description: Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.


name: qualitative or quantitative defects of filamin C


name: spondylometaphyseal dysplasia, pagnamenta type


name: antigen defined by monoclonal antibody Aj9


name: partial duplication of the short arm of chromosome 1


name: dyskeratosis congenita and related telomere biology disorder

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


conventional lipoma

description: A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.


name: intellectual developmental disorder with short stature and variable skeletal anomalies


Karsch-Neugebauer syndrome

description: Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.


name: polyposis, intestinal, scattered and discrete


name: autosomal dominant nonsyndromic hearing loss 47

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.


drug-induced localized lipodystrophy

description: Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.


BRCA1-related cancer predisposition

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


acrocephalopolydactyly

description: Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.


blastoma

description: A malignant neoplasm composed of undifferentiated cells.


name: acute myeloid leukemia, KRAS gene mutation

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


description: Myeloid leukemia characterized by the presence of Philadelphia chromosome.


sclerosing liposarcoma

description: A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma.


name: malignant Sertoli-Leydig cell tumor of ovary

description: Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occurring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.


metaphyseal acroscyphodysplasia

description: Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.


granulomatous hypophysitis

description: Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.


name: blepharophimosis-ptosis-epicanthus inversus syndrome type 1


bladder trigone cancer

description: A malignant neoplasm involving the trigone of urinary bladder.


aortic arch defects

description: Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.


tinea infection

description: A skin infection caused by a fungus.


glioma susceptibility 2

description: Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.


name: congenital pulmonary venous return anomaly

description: Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.


craniosynostosis, Philadelphia type

description: Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.


name: infantile-onset autosomal recessive nonprogressive cerebellar ataxia


exogenous ochronosis

description: Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.


name: autosomal recessive spastic paraplegia type 70

description: Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.


MAN2B2 deficiency

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


name: hereditary inclusion body myopathy type 4

description: Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.


chronic apical periodontitis

description: Chronic form of periapical periodontitis.


rat-bite fever

description: An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus.


adult liposarcoma

description: A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.


N syndrome

description: N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity.


name: contractures-developmental delay-Pierre Robin syndrome


name: intellectual developmental disorder, X-linked, syndromic, Pilorge type


name: craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

description: Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.


subacute thyroiditis

description: Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function.


Rombo syndrome

description: Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.


leukoplakia of gingiva

description: A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.


lower clivus meningioma

description: A meningioma that affects the lower clivus.


name: nephropathy - deafness - hyperparathyroidism syndrome

description: Nephropathy-deafness-hyperparathyroidism syndrome is characterized by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.


name: congenital myasthenic syndrome with tubular aggregates

description: A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.


name: scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities


anti-NMDA receptor encephalitis

description: An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor.


name: hypoparathyroidism, familial isolated, 2


invasive non-typhoidal salmonellosis

description: Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed.


name: anti-neutrophil cytoplasmic antibody-associated vasculitis

description: Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.


Lowry-MacLean syndrome

description: Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.


ciliary body cancer

description: A malignant neoplasm involving the ciliary body.


name: lip herpes simplex type 2 infectious disorder

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


hereditary narcolepsy

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


description: X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.


toxic oil syndrome

description: Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.


name: disseminated intravascular coagulation in newborn

description: A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.


name: dysmorphism-short stature-deafness-disorder of sex development syndrome

description: Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.


name: isolated lissencephaly type 1 without known genetic defects

description: Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.


name: mitochondrial complex 2 deficiency, nuclear type 4


mixed germ cell-sex cord-stromal tumor

description: A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable.


X-linked corneal dermoid

description: X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.


name: susceptibility to familial cutaneous melanoma

description: A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.


skull disorder

description: A non-neoplastic or neoplastic disorder that affects structures of the skull.


acquired deficiency anemia

description: An instance of deficiency anemia that is acquired during the lifetime of the individual.


nasal cavity neoplasm

description: A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


glycogen storage disease IXa2

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


name: developmental and epileptic encephalopathy, 67


congenital nervous system disorder

description: An abnormality of the nervous system that is present at birth or detected in the neonatal period.


name: prelingual non-syndromic genetic hearing loss

description: A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.


name: craniosynostosis with anomalies of the cranial base and digits


benign secondary hypertension

description: Mild to moderate high blood pressure that is caused by an underlying medical condition.


name: camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

description: A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).


iatrogenic botulism

description: Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.


oculoglandular tularemia

description: A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.


name: melanoma, cutaneous malignant, susceptibility to, 8

description: An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.


name: lymphoid system deterioration, progressive


Listeria meningitis

description: Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)


Hinman syndrome

description: Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.


benign neoplasm of hypopharynx

description: A benign neoplasm that involves the hypopharynx.


abducens nerve neoplasm

description: A neoplasm involving a abducens nerve.


name: developmental and epileptic encephalopathy 102


thecoma

description: An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.


name: acute myeloid leukemia by FAB classification

description: Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.


acute myeloid leukemia, del(5q31-q32)

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


name: GJC2-related late-onset primary lymphedema

description: A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.


proteostasis deficiencies

description: Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.


neoplasm of femur

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


blastema predominant kidney Wilms tumor

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


primary adrenal insufficiency

description: A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.


name: factor V short isoforms-related bleeding disorder


name: MELAS syndrome caused by mutation in MTND6

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


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

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


name: neurodevelopmental disorder with seizures and brain atrophy


skin sarcoma

description: A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.


ectodermal dysplasia-blindness syndrome

description: Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.


description: Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.


beriberi

description: Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.


name: partial deletion of the short arm of chromosome 6


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 8


name: congenital disorder of glycosylation with defective fucosylation 2


pancreatic cancer, susceptibility to, 4

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene.


retroperitoneal neoplasm

description: A benign or malignant neoplasm that affects the retroperitoneum.


X-linked intellectual disability

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


name: facioscapulohumeral muscular dystrophy 3, digenic


autonomic dysreflexia

description: A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)


chondroblastic osteosarcoma

description: An osteosarcoma characterized by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.


juvenile neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.


name: EPHB4-related lymphatic-related hydrops fetalis

description: A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.


primary unilateral adrenal hyperplasia

description: Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.


name: mixed phenotype acute leukemia with MLL rearranged

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


name: classic paraneoplastic limbic encephalitis

description: Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.


name: intellectual developmental disorder, autosomal recessive 73


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


name: Oroacral syndrome, Verloes-Koulischer type


viral pericarditis

description: Pericarditis that is caused by an infection with a viral agent.


polyradiculoneuropathy

description: Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.


X-linked cerebral adrenoleukodystrophy

description: A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.


endocervicitis

description: Inflammation of the endocervix.


name: hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation


name: insensitivity to pain with hyperplastic Myelinopathy


median cleft lip/mandibule

description: Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.


intracranial liposarcoma

description: A malignant adipose tissue neoplasm of the intracranial region.


name: partial duplication of the short arm of chromosome 19


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

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


name: twin reversal arterial perfusion syndrome


papillomatosis, florid, of nipple

description: A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.


name: distal hereditary motor neuropathy type 7

description: Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.


name: multiple system atrophy, cerebellar type

description: Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).


name: liver fibrocystic disease and polydactyly


name: frontotemporal dementia, right temporal atrophy variant

description: Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.


choroidal atrophy-alopecia syndrome

description: Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.


name: Pelizaeus-Merzbacher disease, connatal form

description: The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.


visceral botryomycosis

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


small cell sarcoma

description: A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.


name: alopecia-intellectual disability syndrome 2


vulva cancer

description: A primary or metastatic malignant neoplasm involving the vulva.


pediatric myxoid chondrosarcoma

description: A myxoid chondrosarcoma occurring in children.


urachal diverticulum

description: Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.


name: familial atypical multiple mole melanoma syndrome


name: hereditary sensorimotor neuropathy with hyperelastic skin


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


food dermatitis

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


name: qualitative or quantitative defects of delta-sarcoglycan


name: autosomal dominant nonsyndromic hearing loss 54

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.


ectasia of the right atrial appendage

description: Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.


name: thrombocytopenia with elevated serum IgA and renal disease


name: acute myeloid leukemia, loss of chromosome 17p

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


Aase-Smith syndrome

description: Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.


CERKL-related retinopathy

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


name: infection due to clostridium perfringens


name: lissencephaly with cerebellar hypoplasia type D

description: Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.


name: pauci-immune glomerulonephritis with ANCA

description: Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.


ulnar hypoplasia-split foot syndrome

description: Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.


name: neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia


Indian tick typhus

description: An infectious disease caused by infection with rickettsia conorii subsp. coronorii.


name: intellectual disability, autosomal recessive 24


name: Prader-Willi syndrome due to translocation


non-secreting paraganglioma

description: Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.


extraocular retinoblastoma

description: Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.


hypothalamic dysfunction

description: Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.


leiomyomatosis

description: A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.


autoinflammatory disease, X-linked

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


tuberculous empyema

description: An empyema resulting from infection by Mycobacterium tuberculosis.


name: congenital absence of thigh and lower leg with foot present, unilateral


name: arthrogryposis-like hand anomaly-sensorineural deafness syndrome

description: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.


name: shoulder and thorax deformity-congenital heart disease syndrome


name: Kniest-like dysplasia with pursed lips and ectopia lentis


vaginal disorder

description: A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.


vaginal germ cell malignant tumor

description: A malignant germ cell tumor that involves the vagina.


pinta disease

description: An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.


benign neoplasm of buccal mucosa

description: A benign neoplasm that involves the buccal mucosa.


scrotum melanoma

description: A melanoma (disease) that involves the scrotum.


laryngeal tuberculosis

description: Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.


harlequin syndrome

description: Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.


heel spur

description: A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.


neurosarcoidosis

description: A sarcoidosis that involves the nervous system.


LTBP2-related ocular dysgenesis

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


name: spastic paraplegia 89, autosomal recessive


ADAM9-related retinopathy

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


name: MELAS syndrome caused by mutation in MTTH

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


name: polyarticular juvenile rheumatoid arthritis


chronic mountain sickness

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


name: intellectual disability-hyperkinetic movement-truncal ataxia syndrome


spinocerebellar ataxia type 32

description: Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.


name: autosomal dominant nonsyndromic hearing loss 31

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.


name: familial recurrent peripheral facial palsy


autoimmune uveitis

description: An autoimmune form of uveitis (disease).


intermediate malignant teratoma

description: An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.


name: paternal uniparental disomy of chromosome 6

description: Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.


name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy


tibialis tendinitis

description: A tendinitis that involves the tibialis.


name: endocardial fibroelastosis and coarctation of abdominal aorta


neoplasm of aortic body

description: A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.


chromosome 11 disorder

description: Chromosomal disorder in which chromosome 11 is affected.


echinostomiasis

description: Infection by flukes of the genus Echinostoma.


inborn vitamin metabolic disorder

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


name: autosomal recessive spastic paraplegia type 71


name: retinal telangiectasia and hypogammaglobulinemia


commensal bacterial infectious disease

description: A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.


name: multiple epiphyseal dysplasia, Lowry type

description: Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.


name: chromosome 19q13.11 deletion syndrome, proximal

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


congenital fibrosarcoma

description: A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.


name: Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone

description: A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.


name: microcephaly with simplified gyral pattern


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

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


carcinoid heart disease

description: Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.


description: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.


name: neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects


name: immunodeficiency due to a classical component pathway complement deficiency


paratenonitis

description: Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.


chromosome 14 disorder

description: Chromosomal disorder in which chromosome 14 is affected.


name: acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)

description: Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.


HHV-6 encephalitis

description: HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.


ascaridiasis

description: Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.


dentin caries

description: A dental caries that involves the dentine.


skeletal dysplasia

description: Any Mendelian diseases that affects growth and development of the skeleton.


acute panmyelosis with myelofibrosis

description: An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.


chondroid lipoma

description: A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.


oculomotor nerve cancer

description: A cancer involving a oculomotor nerve.


muscular dystrophy, American mink

description: Muscular dystrophy that occurs in American mink.


bilateral frontal polymicrogyria

description: Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.


name: COQ7-related distal hereditary motor neuropathy


giant cell tumor

description: A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells.


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


name: symphalangism with multiple anomalies of hands and feet

description: Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.


fundus pulverulentus

description: Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.


kidney cortex disease

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


name: torsade-de-pointes syndrome with short coupling interval

description: Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.


infratentorial neoplasm

description: A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.


distal trisomy 7p

description: Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.


canine transmissible venereal tumor

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


name: immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes


subacute lymphocytic thyroiditis

description: Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.


isolated cerebellar vermis hypoplasia

description: Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.


bone inflammation disease

description: Inflammation of the bone.


cranial nerve neuropathy

description: A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.


pyosalpinx

description: The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.


lethal congenital contracture syndrome

description: A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.


name: chromosome 17q21.31 duplication syndrome

description: The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.


name: myopathy, congenital, with structured cores and z-line abnormalities


mosaic trisomy 21

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


pediatric angiosarcoma

description: An angiosarcoma occurring in childhood.


name: hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain


name: familial clubfoot due to 5q31 microdeletion


name: seizures, early-onset, with neurodegeneration and brain calcifications


cartilage cancer

description: A cancer involving a cartilage tissue.


lichen sclerosus et atrophicus

description: A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.


liposarcoma of bone

description: A very rare malignant adipose tissue neoplasm that arises from the bone.


name: lethal hemolytic anemia-genital anomalies syndrome

description: Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.


name: neurodevelopmental disorder with microcephaly and dysmorphic facies


acute disease

description: Disease having a short and relatively severe course.


cervical lymphadenitis

description: Inflammation of the cervical lymph nodes.


name: Rhabdoviridae infectious disease, non-human animal

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


mild hypophosphatasia

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


Wiedemann-Rautenstrauch syndrome

description: Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.


benign neoplasm of hard palate

description: A benign neoplasm that involves the hard palate.


name: corneal degeneration, band-shaped spheroid


name: cervical hypertrichosis-peripheral neuropathy syndrome

description: Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.


name: qualitative or quantitative defects of alphaB-cristallin


lethal Kniest-like dysplasia

description: Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.


corticobasal syndrome

description: Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.


tetraploidy syndrome

description: The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.


name: juvenile-onset Steinert myotonic dystrophy


name: retinitis pigmentosa 87 with choroidal involvement


name: class V glucose-6-phosphate dehydrogenase deficiency


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

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


isolated cryptophthalmia

description: Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.


name: symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch


refractory plasma cell neoplasm

description: A plasma cell neoplasm that is resistant to treatment.


exercise-induced anaphylaxis

description: A rare disorder in which anaphylaxis occurs in association with physical activity.


CTSC-related disorder

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


granulomatous dermatitis

description: An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.


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


name: fibrosis, neurodegeneration, and cerebral angiomatosis


infantile systemic hyalinosis

description: Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.


name: microcephaly 6 with or without short stature

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


substernal goiter

description: An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.


non-syndromic brachydactyly of toes

description: A non-syndromic brachydactyly that involves the pes.


Dahlberg-Borer-Newcomer syndrome

description: Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.


name: mitochondrial complex 3 deficiency, nuclear type 10


name: microcephaly, developmental delay, and brittle hair syndrome


urinary bladder posterior wall cancer

description: Evidence of a malignant neoplasm of the posterior wall of bladder.


chromosome 16 disorder

description: Chromosomal disorder in which chromosome 16 is affected.


name: qualitative or quantitative defects of perlecan


primary laryngeal lymphangioma

description: Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.


lipoma of face

description: A lipoma that involves the face.


conventional leiomyosarcoma

description: An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.


name: ulna hypoplasia-intellectual disability syndrome

description: Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.


name: Angelman syndrome due to imprinting defect in 15q11-q13


name: Prader-Willi syndrome due to imprinting mutation


kidney liposarcoma

description: A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.


name: congenital primary megaureter, refluxing and obstructed form


name: mitochondrial proton-transporting ATP synthase complex deficiency

description: A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).


name: mitochondrial DNA depletion syndrome, hepatocerebrorenal form


post-traumatic epilepsy

description: Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)


large B-cell lymphoma

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


acute cervicitis

description: Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.


vegetative pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflammation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.


thalamic disorder

description: A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.


cardiocranial syndrome, Pfeiffer type

description: Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).


name: spondyloepiphyseal dysplasia, MacDermot type

description: Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.


tricarboxylic acid cycle disorder

description: An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.


cervical artery dissection

description: A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.


name: combined oxidative phosphorylation deficiency 58


PENS syndrome

description: PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.


familial Alzheimer disease

description: A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.


name: malignant epithelial tumor of salivary glands


fallopian tube disorder

description: A disease involving the fallopian tube.


name: chronic mucocutaneous candidiasis due to lymphokine deficiency


annular atrophic lichen planus

description: Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.


structural epilepsy

description: Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.


acute flaccid myelitis

description: An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.


eccrine mixed tumor of skin

description: A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.


SAMHD1-related type 1 interferonopathy

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


name: developmental and epileptic encephalopathy, 69


name: leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome


prurigo

description: A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)


name: arrhythmogenic cardiomyopathy with variable ectodermal abnormalities


name: polymicrogyria with or without vascular-type Ehlers-Danlos syndrome


name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity


hepatitis, infectious canine

description: A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea.


name: FASTKD2-related infantile mitochondrial encephalomyopathy


primary lymphoma of the conjunctiva

description: Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.


name: ossification anomalies-psychomotor developmental delay syndrome

description: Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification.


name: non-syndromic metopic and sagittal craniosynostosis


name: Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type


TRAF3 haploinsufficiency

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


description: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.


name: chlamydia trachomatis infectious disease

description: An infection that is caused by Chlamydia trachomatis.


name: Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology


Proteus-like syndrome

description: Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.


name: partial duplication of the long arm of chromosome 3

description: Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.


description: Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.


name: acrofacial dysostosis, Kennedy-Teebi type

description: Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.


chromosome 4 disorder

description: Chromosomal disorder in which chromosome 4 is affected.


cerebellar neoplasm

description: A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003


supine hypotensive syndrome

description: A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.


larva migrans, visceral

description: A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.


name: IKBKG-related immunodeficiency with or without ectodermal dysplasia

description: Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).


penile sarcoma

description: A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.


enterobiasis

description: An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.


name: dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

description: A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia.


description: Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.


acute frontal sinusitis

description: Acute form of frontal sinusitis.


valvar pulmonary stenosis

description: A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).


name: developmental and epileptic encephalopathy, 90


name: spastic paraplegia 86, autosomal recessive


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


name: intellectual developmental disorder, autosomal recessive 68


lymphoid system disorder

description: A disease or disorder that involves the lymphoid system.


congenital myopathy, Paradas type

description: Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.


near-fatal asthma

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


neuritis of upper limb

description: A neuritis that involves the forelimb.


name: Ambras type hypertrichosis universalis congenita

description: Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.


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


non specific chronic endometritis

description: Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.


skin angiosarcoma

description: A malignant vascular neoplasm arising from the skin.


name: benign male reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.


name: non-specific autoimmune supratentorial encephalitis with characteristic antibodies


canine lung adenocarcinoma

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


name: spinal muscular atrophy with intellectual disability


escherichia coli discitis

description: Discitis caused by infection with Escherichia coli.


name: colorectal cancer, susceptibility to, 11


inherited epidermolysis bullosa

description: Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.


benign neoplasm of adrenal medulla

description: A benign neoplasm that involves the adrenal medulla.


name: cornea guttata with anterior polar cataracts


name: combined hyperactive dysfunction syndrome of the cranial nerves


ocular vascular disorder

description: A disorder that is caused by pathologic changes in the ocular vasculature.


adult pleomorphic rhabdomyosarcoma

description: An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.


interventricular septum aneurysm

description: Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.


name: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

description: A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.


name: type II hypersensitivity reaction disease

description: A disease that has its basis in the disruption of type II hypersensitivity.


name: severe nonproliferative diabetic retinopathy


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


brachial amyotrophic diplegia

description: A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.


early onset hypertension

description: A form of hypertension with early onset relative to normal range for a given population.


isolated congenital alacrima

description: Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.


name: partial trisomy of the long arm of chromosome 18


name: childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome


name: colorectal cancer, susceptibility to, 10

description: Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.


name: neurodevelopmental disorder with epilepsy and brain atrophy


name: atrophia maculosa varioliformis cutis, familial


bacillary angiomatosis

description: A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals.


name: spondyloepiphyseal dysplasia, kondo-fu type


name: leukemia, acute lymphocytic, susceptibility to, 1


erythroid neoplasm

description: A neoplasm affecting cells of the erythroid lineage.


childhood testicular choriocarcinoma

description: A choriocarcinoma that arises from the testis during childhood.


name: metachromatic leukodystrophy, late infantile form


name: paternal uniparental disomy of chromosome 1

description: Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


name: SLC10A7-congenital disorder of glycosylation

description: SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.


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


adhesive otitis media

description: An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.


lepromatous leprosy

description: A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.


name: isolated bilateral hemispheric cerebellar hypoplasia

description: Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.


name: polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies


name: RNASEH2A-related type 1 interferonopathy

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


Allen-Masters syndrome

description: A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.


name: neurodevelopmental disorder with poor growth and skeletal anomalies


name: onychogryposis, pedal, with keratosis plantaris and coarse hair


T-cell adult acute lymphocytic leukemia

description: An acute T-lymphoblastic leukemia occurring in adults.


name: glutamyl ribose-5-phosphate storage disease


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

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


pseudohypoparathyroidism type 2

description: Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.


CNGB3-related retinopathy

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


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


distal monosomy 13q

description: Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.


gonococcal bursitis

description: An bursitis caused by infection with Neisseria gonorrhoeae.


caudal regression-sirenomelia spectrum

description: Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.


acquired agranulocytosis

description: Agranulocytosis that is autoimmune in origin.


stromal corneal pigmentation

description: Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.


name: chromosome 19q13.11 deletion syndrome, distal

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


name: multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

description: Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.


name: dyskeratosis congenita, autosomal recessive 6

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


name: autosomal recessive frontotemporal pachygyria


name: myopathy, distal, 6, adult-onset, autosomal dominant


overnutrition

description: An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.


name: pseudoacromegaly with severe insulin resistance


reciprocal translocation down syndrome

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


inherited kidney disorder

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