early-onset anterior polar cataract

description: A polar cataract that affects the anterior pole of the lens.


Posterior subcapsular cataract

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.


cataract 25

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

description: A cataract that has material basis in variation in the region 15q21-q22.


Coralliform cataract

description: A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.


name: leukoencephalopathy with vanishing white matter

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


name: leukoencephalopathy, hereditary diffuse, with spheroids


Hypoplastic anemia

description: Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.


epithelioid sarcoma

description: An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).


mucositis

description: Inflammation of the mucous membranes.


Residual Tumor

description: Tumor cells that remain in the body following cancer treatment.


name: hereditary pulmonary alveolar proteinosis

description: Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.


Neoplasms, Therapy-Associated

description: The development of a neoplasm in response to medical or surgical treatment, induced by the treatment itself.


linear scleroderma

description: A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.


Treatment related secondary malignancy

description: The development of a malignant neoplasm in response to medical or surgical treatment, induced by the treatment itself.


Morphea

description: Isolated patches of hardened skin (scleroderma).


Kleine-Levin syndrome

description: Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances.


exfoliative ichthyosis

description: Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.


Ectopic thyroid

description: Mislocalised thyroid gland.


congenital myotonic dystrophy

description: Myotonic dystrophy that is present at birth.


Thyroid agenesis

description: The congenital absence of the thyroid gland.


aortic valve disorder

description: A disease involving the aortic valve.


deletion 5q35

description: Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.


name: Atrial Septal Defect with Atrioventricular Conduction Defects


diffuse alopecia areata

description: An alopecia areata that involves diffuse loss of hair over the whole scalp.


butterfly-shaped pigment dystrophy

description: A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.


pediatric hepatocellular carcinoma

description: Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.


hereditary methemoglobinemia

description: Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.


name: Autosomal Recessive Chronic Granulomatous Disease


name: Anterior Cerebral Circulation Infarction


name: adnexal spiradenoma/cylindroma of a sweat gland

description: A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.


head and neck carcinoma

description: A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.


congenital glaucoma

description: A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.


nasopharyngeal neoplasm

description: A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.


Centrilobular emphysema

description: A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.


malignant tumor of nasopharynx

description: A cancer that involves the nasopharynx.


Panacinar emphysema

description: Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.


Opisthorchis viverrini Infection

description: An infection caused by the parasite Opisthorchis viverrini. It results from the ingestion of raw or undercooked food. The clinical features vary from mild to severe and include gastrointestinal symptoms, anorexia, weight loss, hepatomegaly, and cholangitis. Patients are at an increased risk of developing cholangiocarcinoma.


Gonadotropin-Resistant Ovary Syndrome

description: Ovarian dysfunction due to a defect at the receptor or post receptor level, or due to the presence of antibodies against gonadotropin receptors, resulting in deficient gonadotropin signaling that causes elevated concentrations of follicle stimulating hormone and/or luteinizing hormone. A distinguishing feature is the presence of normal numbers of ova.


name: Abnormality of extrapyramidal motor function

description: A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).


orgasm disorder

description: A change in the ability to obtain orgasm or in the quality of the orgasmic sensation.


Cogwheel rigidity

description: A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).


Limitation of neck motion

description: Limited mobility of the neck, usually accompanied by pain.


alcoholic fatty liver disease

description: Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated.


Hypoaldosteronism, Hyporeninemic

description: Hypoaldosteronism characterized by hyperkalemia and inappropriately low renin activity. This condition may be caused by a primary renal disorder, drugs or autoimmune processes.


name: non-classic congenital adrenal hyperplasia

description: A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.


ovarian mucinous adenocarcinoma

description: An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.


carcinoma of esophagus

description: Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).


benign neoplasm of esophagus

description: A benign neoplasm that involves the esophagus.


esophagus carcinoma in situ

description: Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)


Emotional lability

description: Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.


Toriello-Carey syndrome

description: Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.


name: progressive muscular dystrophy, limb-girdle, type 2R


name: Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism


Percussion myotonia

description: A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).


neoplasm of testis

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


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


hyperprolactinemia

description: Abnormally high level of prolactin in the blood.


Gambling

category: biolink:Behavior biolink:OntologyClass biolink:ActivityAndBehavior biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent


disruptive behavior disorder

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


dental pulp calcification

description: Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.


disorder of ear

description: A disease that involves the ear.


Oligodendroblastoma

description: An obsolete term referring to neoplasms arising from oligodendrocytes.


torsion dystonia

description: Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.


familial idiopathic torsion dystonia

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


focal dystonia

description: A dystonia that is localized to a specific part of the body.


name: Adult-Onset Idiopathic Torsion Dystonias


inherited dystonia

description: An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.


psychogenic movement disorders

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


Total colonic aganglionosis

description: A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.


parasympathetic nervous system disorder

description: A disease or disorder that involves the parasympathetic nervous system.


sympathetic nervous system disorder

description: A disease or disorder that involves the sympathetic nervous system.


Oligodontia

description: The absence of six or more teeth from the normal series by a failure to develop.


Parosmia

description: Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.


Cacosmia

description: A hallucination of an unpleasant odor.


Marginal ulcer

description: An ulcer that develops in the jejunal mucosa close to the anastomosis site following a gastroenterostomy procedure.


Cerebrovascular Insufficiency

description: A condition resulting in inadequate blood flow through the blood vessels supplying the brain, due to intrinsic disease of the vasculature.


name: Upper Airway Resistance Sleep Apnea Syndrome


name: familial primary hypomagnesemia with normocalciuria and normocalcemia

description: Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.


bile duct neoplasm

description: A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.


tongue squamous cell carcinoma

description: A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.


name: Hereditary, Type VII, Motor and Sensory Neuropathy


hereditary motor and sensory neuropathy

description: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)


name: Congenital supravalvular aortic stenosis


name: X-linked Emery-Dreifuss muscular dystrophy

description: X-linked form of Emery-Dreifuss muscular dystrophy.


name: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy


name: Alcohol Withdrawal-Induced Major Motor Seizure


name: Status Epilepticus, Alcohol Withdrawal-Induced


benign neoplasm of adrenal gland

description: A benign neoplasm that involves the adrenal gland.


name: Benign neoplasm of aortic body and other paraganglia


adrenal medulla cancer

description: A malignant neoplasm involving the adrenal medulla


name: Malignant neoplasm of aortic body and other paraganglia

description: Evidence of a malignant neoplasm of the aortic body and other paraganglia.


secondary polycythemia

description: Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).


undifferentiated ovarian carcinoma

description: An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.


anaplastic ependymoma

description: Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.


Anemia, Hemolytic, Acquired

description: Hemolytic anemia, the cause of which is not present at birth.


Lassitude

description: Physical or mental fatigue.


subependymoma

description: Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.


trichothiodystrophy

description: Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).


Chiari malformation type I

description: Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.


Chiari malformation type 3

description: A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.


extraskeletal Ewing sarcoma

description: A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.


name: hematopoietic and lymphoid cell neoplasm

description: A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.


name: supratentorial primitive neuroectodermal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.


ependymoblastoma

description: Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.


Multiple exostoses

description: Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


Osteochondromatosis

description: An autosomal dominant neoplastic chondrogenic process affecting multiple sites. It is caused by mutations in the EXT1 or EXT2 genes.  Grossly and microscopically, the lesions resemble an osteochondroma.


Solid Neoplasm

description: A benign or malignant neoplasm arising from tissues that do not include fluid areas.  Representative examples include epithelial neoplasms (e.g. lung carcinoma, prostate carcinoma, breast carcinoma, colon carcinoma), and neoplasms arising from the soft tissues and bones (e.g. leiomyosarcoma, liposarcoma, chondrosarcoma, osteosarcoma).  Neoplasms originating from the blood or bone marrow (leukemias and myeloproliferative disorders) are not considered solid tumors.


description: Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.


factor V deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


factor VII deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.


severe hemophilia A

description: Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


mild hemophilia A

description: Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


factor X deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.


factor XIII deficiency

description: An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.


pregnancy disorder

description: A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.


geleophysic dysplasia

description: Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').


Rasmussen subacute encephalitis

description: A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.


name: Neuropsychiatric Systemic Lupus Erythematosus


ovarian endometrioid adenocarcinoma

description: An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma.


Fibrinogen Deficiency

description: A usually inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding.


name: autosomal recessive faciodigitogenital syndrome

description: Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.


tooth disorder

description: A disease involving the calcareous tooth.


oculootodental syndrome

description: Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.


lobar holoprosencephaly

description: Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


alobar holoprosencephaly

description: Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.


Semilobar holoprosencephaly

description: A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


name: myeloid neoplasm associated with FGFR1 rearrangement

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


choanal atresia

description: Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.


yolk sac tumor

description: A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.


testicular teratoma

description: A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites.


cervical carcinoma

description: A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.


wooly hair nevus

description: Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.


name: micromelic bone dysplasia with cloverleaf skull


PTEN hamartoma tumor syndrome

description: A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.


name: hereditary clear cell renal cell carcinoma

description: A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.


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


Axenfeld anomaly

description: Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.


ichthyosis vulgaris

description: The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.


name: peripheral primitive neuroectodermal tumor

description: A small round cell tumor with neural differentiation arising from the soft tissues or bone.


phyllodes tumor

description: A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.


intestinal pseudo-obstruction

description: Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate.


malignant phyllodes tumor

description: A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.


name: visceral neuropathy, familial, 1, autosomal recessive

description: A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.


name: otopalatodigital syndrome spectrum disorder

description: Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.


name: acute myeloid leukemia with minimal differentiation

description: An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)


gonadal agenesis

description: A congenital disorder characterized by the complete absence of gonadal tissue.


name: Central Nervous System Inborn Metabolic Diseases


fibrous dysplasia

description: A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.


name: Focal Cortical Dysplasia of Taylor, Type IIa


Focal cortical dysplasia type IIa

description: A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.


Focal cortical dysplasia type IIb

description: A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.


Follicle stimulating hormone deficiency

description: Subnormal concentration of follicle stimulating hormone.


myxofibrosarcoma

description: A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.


glycogen storage disease I

description: Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.


name: Generalized glycogen storage disease of infants


name: Glycogen Storage Disease Type II, Infantile


name: Glycogen Storage Disease Type II, Juvenile


name: glycogen storage disease due to acid maltase deficiency, infantile onset

description: Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.


Dravet syndrome

description: Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.


Schizoaffective disorder, bipolar type

description: Schizoaffective disorder with episodes of mania and depression.


Simple febrile seizure

description: A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.


Complex febrile seizure

description: A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.


adult Krabbe disease

description: A Krabbe disease that occurs in an adult.


holoprosencephaly 1

description: The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.


name: Dyserythropoietic Anemia with Thrombocytopenia


partial atrioventricular canal

description: Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.


name: glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form


name: glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form


name: glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form


name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form


name: glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form


constipation disorder

description: Irregular and infrequent or difficult evacuation of the bowels.


Colonic inertia

description: The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.


name: DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES


name: Developmental Delay, Epilepsy, and Neonatal Diabetes


Deuteranomaly

description: A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.


name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


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


name: double outlet right ventricle with subpulmonary ventricular septal defect


name: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Muscle hypertrophy

category: biolink:PhysiologicalProcess biolink:OntologyClass biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent


Digestive system neoplasm

description: A tumor (abnormal growth of tissue) of the digestive system.


name: transgrediens et progrediens palmoplantar keratoderma


name: alopecia congenita keratosis palmoplantaris


Phlegmon

description: Purulent inflammation of the cellular or areolar tissue.


Xeroderma

description: A non-neoplastic disorder characterized by abnormally dry skin.  Causes include vitamin A deficiency, sunlight exposure, medications, metabolic disorders, autoimmune disorders, and hereditary genetic disorders.


name: porokeratotic eccrine ostial and dermal duct nevus

description: A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.


neuropathy with hearing impairment

description: This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.


synpolydactyly

description: A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).


tibial hemimelia

description: Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.


postaxial polydactyly type A

description: Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.


iris melanoma

description: A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.


malignant choroid melanoma

description: A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.


adrenal cortex neoplasm

description: A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)


malignant tumor of adrenal cortex

description: A cancer that involves the adrenal cortex.


capillary malformation

description: A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).


polyostotic fibrous dysplasia

description: Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.


pseudohypoaldosteronism type 1

description: Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.


pseudohypoaldosteronism type 2

description: A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.


name: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SOMATIC


name: POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC


Renal Parathyroid Hormone Resistance

description: Parathyroid hormone resistance caused by defects in methylation in the GNAS gene that cause loss of expression of Gs-alpha from the maternal allele in renal tissue, resulting in decreased phosphate excretion and increased calcium excretion. Individuals with this condition may also have brachydactyly and partial resistance to thyroid-stimulating hormone.


Mazabraud syndrome

description: Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occurring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.


name: MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC


name: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS


name: PITUITARY ADENOMA 3, MULTIPLE TYPES, SOMATIC


name: PITUITARY ADENOMA 3, ACTH-SECRETING, SOMATIC


name: PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC


name: PITUITARY ADENOMA 3, GROWTH HORMONE-SECRETING, SOMATIC


name: Progressive cone dystrophy (without rod involvement)


Color Blindness, Inherited

description: Genetic based difficulty in distinguishing colors.


name: fetal and neonatal alloimmune thrombocytopenia

description: Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.


name: Fetal and neonatal alloimmune thrombocytopenia


primary progressive aphasia

description: Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).


Semantic dementia

description: A progressive loss of the ability to remember the meaning of words, faces and objects.


name: continuous spikes and waves during sleep

description: Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.


name: Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance


fibromyxoid tumor

description: A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.


chondromyxoid fibroma

description: An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.


alcohol withdrawal delirium

description: An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)


Pleural rub

description: An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles


Crackles

description: Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.


Respiratory Sounds

category: biolink:ClinicalAttribute biolink:Attribute biolink:OntologyClass biolink:NamedThing


Rhonchi

description: Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.


Stridor

description: Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.


Wheezing

description: A high-pitched whistling sound associated with labored breathing.


central areolar choroidal dystrophy

description: A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.


meconium ileus

description: Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.


acute fatty liver of pregnancy

description: Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.


name: Trifunctional Protein Deficiency, Type 2


name: histidinuria due to a renal tubular defect

description: An increased concentration of histidine in the urine.


name: Alpha thalassaemia-mental retardation syndrome


name: sickle cell-hemoglobin c disease syndrome

description: A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.


name: sickle cell-beta-thalassemia disease syndrome

description: Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.


name: sickle cell-hemoglobin d disease syndrome

description: A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.


narcolepsy without cataplexy

description: A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.


name: Tay-Sachs disease, B variant, adult form


name: Hexosaminidase alpha-Subunit Deficiency (Variant B)


Sandhoff disease, adult form

description: A Sandhoff disease that occurs in an adult.


HELLP syndrome

description: A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.


name: Shiga toxin-associated hemolytic uremic syndrome

description: A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.


Hypoxic-Ischemic Encephalopathy

description: Ischemic brain damage in which the entire brain is deprived of oxygen. It may be fatal or lead to long term disabilities including developmental delays, intellectual disability, and seizures.


Parapsoriasis en Plaques

description: A variant of parapsoriasis in which the plaques are large.


name: Pulmonary arterial hypertension associated with connective tissue disease


neoplasm of oropharynx

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


idiopathic achalasia

description: A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.


oropharyngeal carcinoma

description: Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.


1q44 microdeletion syndrome

description: 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.


Talipes calcaneovalgus

description: Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.


Charcot-Marie-Tooth disease type 1

description: Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.


Food Poisoning

description: Any disorder that results from the consumption of food contaminated with an infectious agent or toxin.


female reproductive system neoplasm

description: A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.


name: hypertrophic osteoarthropathy, primary, autosomal dominant


Hyperuricemia

description: An abnormally high level of uric acid in the blood.


Nevus spilus

description: A tan, regularly bordered patch with darker macules within the lesion.


verrucous nevus

description: A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.


name: inflammatory linear verrucous epidermal nevus


urothelial carcinoma

description: A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary.


phakomatosis pigmentokeratotica

description: Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.


thymus neoplasm

description: A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.


Adrenoleukodystrophy, Neonatal

description: A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma.


description: Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.


name: distal hereditary motor neuropathy type 2


fibrolamellar hepatocellular carcinoma

description: A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.


postpartum depression

description: A type of clinical depression that occurs after childbirth.


name: Severe major depression with psychotic features


African Burkitt's lymphoma

description: A clinical variant of Burkitt lymphoma that occurs in equatorial Africa.  The Epstein-Barr virus has been detected in all patients.  It is the most common malignancy of childhood in this area.


name: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

description: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.


anaplastic oligoastrocytoma

description: An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.


name: lysosomal storage disease with skeletal involvement


vaginal neoplasm

description: A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.


Pulsatile tinnitus

description: Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.


Clicking tinnitus

description: A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers.


name: Tinnitus, Spontaneous Oto-Acoustic Emission


Pontiac fever

description: Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.


Cardiorespiratory arrest

description: Cessation of breathing and/or cardiac function.


Disturbance in mood

description: A change in disposition or state of mind.


hyper-IgE syndrome

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


name: inherited susceptibility to mycobacterial diseases

description: A rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.


Demyelination

description: Breakdown, or abnormal development, of a nerve fiber myelin sheath.


name: Clinically Isolated Syndrome, CNS Demyelinating


Hemihypertrophy

description: Overgrowth of only one side of the body.


infectious myositis

description: An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.


Myositis, Proliferative

description: A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the skeletal muscle. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.


idiopathic inflammatory myopathy

description: Idiopathic form of inflammatory myopathy.


selective IgG immunodeficiency

description: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.


fetal iodine syndrome

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


Myxedema, Congenital

description: Congenital iodine deficiency syndrome associated with milder mental retardation, short stature, goiter, and hypothyroidism. It results from iodine deficiency and hypothyroidism in the fetus during late pregnancy or in the neonatal period.


amnionitis

description: Inflammation of the amnion.


funisitis

description: An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.


name: Intracranial Arteriovenous Malformation, Ruptured


Acute Bacterial Prostatitis

description: An acute infection of the prostate gland caused by bacteria, most often Escherichia coli, Proteus mirabilis, Klebsiella, and Pseudomonas aeruginosa. Signs and symptoms include fever, lower back pain, urinary frequency, and painful urination.  The urinalysis reveals the presence of white cells.  Risk factors include intraprostatic ductal reflux, phimosis, urinary tract infections, and unprotected anal intercourse.


Asymptomatic Inflammatory Prostatitis

description: Inflammation of the prostate gland that is not associated with any symptoms. It is characterized by the presence of inflammatory cells in the prostatic fluid.


Chronic Bacterial Prostatitis

description: A chronic infection of the prostate gland caused by bacteria.  It is manifested with recurring urinary tract infections.  The culture of the prostatic fluid, semen, or post-massage urine specimen reveals the presence of bacteria.


name: Chronic Prostatitis with Chronic Pelvic Pain Syndrome


name: adult-onset foveomacular vitelliform dystrophy

description: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.


squamous cell carcinoma of lip

description: A squamous cell carcinoma that involves the lip.


hypopharynx squamous cell carcinoma

description: A squamous cell carcinoma that involves the hypopharynx.


laryngeal squamous cell carcinoma

description: A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.


Delusion of love

description: A delusion (a fixed false belief held despite evidence to the contrary) of being loved by another person, even though there is no evidence of this, and the person in question denies it.


name: Left ventricular outflow tract obstruction

description: Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.


Dysesthesia

description: Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.


name: MPTP-Induced Degeneration of the Striatum


cleft lip and alveolus

description: Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.


bladder exstrophy

description: Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.


extranodal nasal NK/T cell lymphoma

description: Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.


Minamata disease

description: A neurological syndrome caused by severe mercury poisoning.


name: isolated autosomal dominant hypomagnesemia, Glaudemans type

description: Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.


name: Other generalized epilepsy and epileptic syndromes


Acoustic Trauma

description: Injury to the hearing mechanisms within the inner ear, caused by excessively loud noise.


DEND syndrome

description: DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.


Neonatal death

description: Death within the first 28 days of life.


mast cell leukemia

description: Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.


maculopapular cutaneous mastocytosis

description: Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.


name: telangiectasia macularis eruptiva perstans


mucosal melanoma

description: A melanoma that arises from a mucosal site.


prekallikrein deficiency

description: A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.


name: Microcephaly with Chorioretinopathy, Autosomal Dominant


name: Epidermolytic palmoplantar keratoderma Vorner type


name: palmoplantar keratoderma, epidermolytic, 2


diffuse palmoplantar keratoderma

description: Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.


skin pigmentation disorder

description: A pigmentation disease that involves the zone of skin.


Unsteady gait

description: A shaky or wobbly manner of walking.


Spastic gait

description: Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.


Shuffling gait

description: A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.


Titubation

description: Nodding movement of the head or body.


Scissor gait

description: A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.


Waddling gait

description: Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.


Steppage gait

description: An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.


Dysphasia

description: Impairment of verbal communication skills, often resulting from brain damage.


name: Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction


Pachygyria

description: Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.


name: Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome


name: Other osteochondrodysplasia with defects of growth of tubular bones and spine


Upper Respiratory Infections

description: An infectious process affecting the upper respiratory tract (nose, paranasal sinuses, pharynx, larynx, or trachea). Symptoms include congestion, sneezing, coughing, fever, and sore throat.


anterior pituitary gland disorder

description: A disease that involves the adenohypophysis.


name: 46,XY Disorder of Sex Development Due To LH Defects


name: Acid cholesteryl ester hydrolase deficiency, type 2


name: combined deficiency of factor V and factor VIII

description: Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.


mandibuloacral dysplasia

description: Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.


name: Pelizaeus-Merzbacher disease, classic form

description: The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.


name: keratosis follicularis spinulosa decalvans

description: Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.


small intestine neoplasm

description: A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.


aortic valve stenosis

description: Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever.


name: obesity due to melanocortin 4 receptor deficiency

description: Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.


Action myoclonus

description: A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.


Palatal tremor

description: Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.


Eyelid myoclonus

description: Marked, involuntary jerking of the eyelids.


Sleep myoclonus

description: Myoclonus that occurs during the initial phases of sleep.


tumor of parathyroid gland

description: A neoplasm (disease) that involves the parathyroid gland.


pancreatic neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade).


silent pituitary adenoma

description: A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.


Opitz G/BBB syndrome

description: Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).


name: clear cell papillary renal cell carcinoma

description: Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.


acute undifferentiated leukemia

description: A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.


bilineal acute myeloid leukemia

description: An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003


name: acute myeloid leukemia, MLL gene rearrangement

description: Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)


Cerebral berry aneurysm

description: A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.


bone neoplasm

description: A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.


Morbus Kienboeck

description: Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.


avascular necrosis

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


name: Electron Transport Chain Deficiencies, Mitochondrial


name: Mitochondrial Respiratory Chain Deficiencies


melanocytic nevus

description: A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.


name: Diaphyseal medullary stenosis with bone malignancy


name: mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1

description: A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase).


name: MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3


hereditary recurrent myoglobinuria

description: An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.


cervical intraepithelial neoplasia

description: Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.


inherited blood coagulation disorder

description: Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.


description: X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.


Leber plus disease

description: Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.


name: Pericardial constriction with growth failure


angiocentric glioma

description: Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.


name: digitotalar dysmorphism; ulnar drift, hereditary


name: Obstructive asymmetric septal hypertrophy


name: atrial septal defect, ostium primum type

description: Atrioventricular septal defect with communication at the atrial level only.


nodular fasciitis

description: A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.


Sebastian Syndrome

description: An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, without other organ dysfunction; it is associated with mutation of the MYH9 gene.


name: autosomal dominant nonsyndromic hearing loss 48

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.


name: progressive familial intrahepatic cholestasis

description: Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.


orofaciodigital syndrome type II

description: Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.


sialidosis

description: Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.


adult malignant schwannoma

description: A malignant peripheral nerve sheath tumor occurring during adulthood.


childhood malignant schwannoma

description: A malignant peripheral nerve sheath tumor occurring in children.


Bilateral vestibular schwannoma

description: A bilateral vestibular schwannoma (acoustic neurinoma).


pleural neoplasm

description: A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.


name: neoplasm with perivascular epithelioid cell differentiation

description: A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.


Schistosoma mansoni infectious disease

description: An infection that is caused by Schistosoma mansoni.


bacterial urinary tract infection

description: A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.


chronic bronchitis

description: A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath.


Ophthalmoplegia

description: Paralysis of one or more extraocular muscles that are responsible for eye movements.


Scanning speech

description: An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.


Internal ophthalmoplegia

description: Paralysis of the iris and ciliary apparatus.


Spastic dysarthria

description: A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.


Ophthalmoparesis

description: Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.


idiopathic nephrotic syndrome

description: Nephrotic syndrome for which no cause has been identified.


name: primary cutaneous anaplastic large cell lymphoma

description: Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features.


rectum adenocarcinoma

description: An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.


schizophrenia 12

description: A schizophrenia that has material basis in a mutation on chromosome 1p36.2.


maternal phenylketonuria

description: Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.


name: hyperphenylalaninemia due to tetrahydrobiopterin deficiency

description: Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.


young-onset Parkinson disease

description: A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.


renal hypoplasia, bilateral

description: Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.


Lens coloboma

description: A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.


coloboma of eyelid

description: A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.


name: Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities


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


description: A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of a fibrosarcomatous component.


chronic eosinophilic leukemia

description: A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.  Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia.  In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred.  (WHO, 2001)


name: myeloid neoplasm associated with PDGFRA rearrangement

description: A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.


description: This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.


name: myeloid neoplasm associated with PDGFRB rearrangement

description: A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.


lactic acidosis

description: Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.


name: Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease


name: Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal


Sensory Disorders

description: An interruption or alteration in the sensory activity or functions of the nervous system.


name: autosomal recessive cerebellar ataxia-blindness-deafness syndrome


name: Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency


name: Familial intrahepatic cholestasis of pregnancy


neonatal abstinence syndrome

description: A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.


name: alpha-1-Antitrypsin Deficiency, Autosomal Recessive