sterol metabolism disorder

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


essential hypertension, genetic

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

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


vitamin B deficiency

description: A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.


cutaneous mastocytoma

description: Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.


reproductive system cancer

description: A malignant neoplasm involving the reproductive organ


name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

description: The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.


citrullinemia type II

description: Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.


schizophrenia 3

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.


diffuse cutaneous mastocytosis

description: Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).


juvenile ankylosing spondylitis

description: Ankylosing spondylitis occurring in children or adolescents.


non-Zellweger spectrum disorder

description: A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.


name: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

description: A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.


benign neoplasm of adrenal gland

description: A benign neoplasm that involves the adrenal gland.


prostate disorder

description: A disease involving the prostate gland.


inborn aminoacylase deficiency

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


hyperplasia

description: An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.


nervous system disorder

description: A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.


narcolepsy-cataplexy syndrome

description: A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).


optic nerve disorder

description: A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).


glucocorticoid deficiency 1

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.


name: alanine glyoxylate aminotransferase deficiency

description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.


name: inborn disorder of pyrimidine metabolism

description: ANPM


epidermal disease

description: A skin disease that involves the epidermis.


hereditary xanthinuria

description: Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.


name: neurodegeneration with brain iron accumulation

description: Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.


psoriatic arthritis

description: Joint inflammation associated with psoriasis.


sarcoma of cervix uteri

description: A sarcoma involving a uterine cervix.


smoldering plasma cell myeloma

description: A plasma cell myeloma lacking clinical manifestations and organ impairment.


female reproductive organ cancer

description: A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.


disorder of magnesium transport

description: An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.


integumentary system benign neoplasm

description: A benign neoplasm that involves the integumental system.


description: Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.


psychiatric disorder

description: A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.


female reproductive system disorder

description: A disease involving the female reproductive system.


intracranial berry aneurysm

description: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.


name: disorder of metabolite absorption and transport


hereditary optic atrophy

description: A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.


peroxisomal disease

description: A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.


inborn disorder of energy metabolism

description: An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.


name: inborn disorder of amino acid and other organic acid metabolism


dermis tumor

description: A benign, intermediate, or malignant neoplasm that arises from the dermis.


cervical Wilms tumor

description: An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.


sleep disorder

description: A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.


benign essential hypertension

description: A condition of mild to moderate high blood pressure that has no identifiable cause.


name: inborn disorder of amino acid metabolism

description: An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.


uterine ligament cancer

description: A primary or metastatic malignant neoplasm that affects the uterine ligament.


mild hyperphenylalaninemia

description: Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.


panic disorder

description: An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.


phytanoyl-CoA hydroxylase deficiency

description: Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


hereditary disease

description: A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.


name: hyperlysinemia due to defect in lysine transport into mitochondria


hereditary spastic paraplegia

description: Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.


disorder of copper metabolism

description: An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.


free sialic acid storage disease

description: Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).


dermis disorder

description: A disease that involves the dermis.


uveal disorder

description: A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.


intracranial arterial disease

description: Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.


purine metabolism disease

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


name: MELAS syndrome caused by mutation in MTTQ

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


tooth disorder

description: A disease involving the calcareous tooth.


cervix melanoma

description: An aggressive malignant tumor of melanocytic origin that arises from the cervix.


inborn metal metabolism disorder

description: An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.


cerebral arterial disease

description: Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.


isolated glycerol kinase deficiency

description: Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).


Mendelian encephalopathy

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


cutaneous solitary mastocytoma

description: A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.


disorder of methylamine metabolism

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


autosomal genetic disease

description: A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.


name: disorder of carbohydrate transmembrane transport and absorption


primary orthostatic hypotension

description: Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.


glucocorticoid deficiency 2

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.


autosomal recessive disease

description: Autosomal recessive form of disease.


name: MELAS syndrome caused by mutation in MTND1

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.


mast cell neoplasm

description: A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)


name: malignant dysgerminomatous germ cell tumor of ovary

description: Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.


name: Pelizaeus-Merzbacher disease in female carriers

description: Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).


progressive bulbar palsy of childhood

description: A progressive bulbar palsy of childhood that occurs during childhood.


name: malignant germ cell tumor of cervix uteri

description: A malignant germ cell tumor that involves the uterine cervix.


glucose transport disorder

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


name: psoriasis-related juvenile idiopathic arthritis

description: Childhood arthritis typically associated with psoriasis.


biotin metabolic disease

description: A deficiency in biotin through either inherited or acquired causes.


description: A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.


infectious disease

description: A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact.


carbohydrate metabolism disease

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


melanocytic neoplasm

description: A benign, atypical, or malignant neoplasm that arises from and is composed of melanocytes. This category includes melanocytic nevi, melanocytomas, and melanomas.


name: necrotizing encephalomyelopathy, subacute, of Leigh, adult


carbohydrate transport disease

description: A disease that has its basis in the disruption of carbohydrate transport.


name: disorder of folate metabolism and transport


coenzyme Q10 deficiency

description: A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.


schizophrenia 15

description: A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.


hereditary hyperekplexia

description: Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.


name: inborn disorder of ornithine or proline metabolism


myeloid neoplasm

description: Proliferation of myeloid cells originating from a primitive stem cell.


porphyria

description: Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.


eye adnexa disorder

description: A disease involving the ocular adnexa.


name: inborn disorder of pyridoxine metabolism

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


neuroaxonal dystrophy

description: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)


description: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).


name: craniosynostosis syndrome, autosomal recessive

description: Autosomal recessive form of craniosynostosis.


Mendelian neurodevelopmental disorder

description: A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.


description: Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.


name: primary non-gestational choriocarcinoma of ovary

description: Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.


name: theca steroid-producing cell malignant tumor of ovary, not further specified

description: Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.


congenital hematological disorder

description: A disorder of the blood that is present at birth.


prolactin producing pituitary tumor

description: An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.


2-hydroxyglutaric aciduria

description: 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.


sella turcica neoplasm

description: A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.


uterine cancer

description: Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.


name: developmental and epileptic encephalopathy

description: A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.


mouth disorder

description: A disease involving the mouth.


description: Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.


name: autosomal recessive degenerative and progressive cerebellar ataxia


name: inherited lipoic acid biosynthesis defect

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


name: autosomal recessive metabolic cerebellar ataxia


name: pseudoxanthomatous diffuse cutaneous mastocytosis

description: Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.


cardiogenetic disease

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


name: inborn disorder of neurotransmitter metabolism and transport


pregnancy disorder

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


Neu-Laxova syndrome

description: Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.


progressive non-fluent aphasia

description: Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.


name: familial adrenal hypoplasia with absent pituitary luteinizing hormone


subcutaneous tissue disorder

description: A disease involving the superficial fascia.


name: pyruvate carboxylase deficiency, severe neonatal type

description: Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.


schizophrenia 5

description: A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.


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.


mucopolysaccharidosis

description: A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.


disorder of protein N-glycosylation

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


partial lipodystrophy

description: Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.


name: inborn disorder of tryptophan metabolism

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


name: primordial dwarfism and slender bone disorder

description: A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.


inherited ichthyosis

description: Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.


osteonecrosis of genetic origin

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


adult-onset Still disease

description: A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.


acute neonatal citrullinemia type I

description: Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.


inherited lipid metabolism disorder

description: An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.


mood disorder

description: A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.


name: mitochondrial oxidative phosphorylation disorder


schizophrenia 2

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.


disorder of glycogen metabolism

description: An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.


lymphoid neoplasm

description: A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.


erythrokeratoderma

description: An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.


disorder of glycosylation

description: A disease that has its basis in the disruption of glycosylation.


valine metabolism disease

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


central nervous system neoplasm

description: A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.


name: pyruvate carboxylase deficiency, benign type

description: Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.


cholesterol catabolic process disease

description: A disease that has its basis in the disruption of cholesterol catabolic process.


spondyloepiphyseal dysplasia

description: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.


metabolic myopathy

description: A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.


congenital bile acid synthesis defect 4

description: An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.


name: inborn disorder of lysine and hydroxylysine metabolism


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: metabolic disease involving other neurotransmitter deficiency


description: Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.


inborn carbohydrate metabolic disorder

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


HSD10 disease, neonatal type

description: HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.


bone disorder

description: Diseases of bones.


name: disorder of iron metabolism and transport


schizophrenia 11

description: A schizophrenia that has material basis in a mutation on chromosome 10q22.3.


hereditary dementia

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


X-linked disease

description: X-linked form of disease.


neurodevelopmental disorder

description: A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.


laminopathy

description: A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.


synostosis

description: A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.


name: systemic-onset juvenile idiopathic arthritis

description: Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.


inborn errors of metabolism

description: An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.


inborn disorder of histidine metabolism

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


name: MELAS syndrome caused by mutation in MTTC

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


cervical adenosarcoma

description: A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.


uterine corpus cancer

description: A malignant neoplasm involving the body of uterus.


name: multiple congenital anomalies/dysmorphic syndrome without intellectual disability


chronic childhood arthritis

description: An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.


name: disorder of vitamin and non-protein cofactor absorption and transport


calcium metabolic disease

description: Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.


anterior cerebral artery infarction

description: Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.


sitosterolemia

description: A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.


multi-infarct dementia

description: A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.


name: syndrome caused by partial chromosomal deletion

description: A chromosomal disorder consisting of the absence of a part of a chromosome.


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.


22q11.2 deletion syndrome

description: 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.


peroxisome biogenesis disorder

description: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).


hypophosphatasia

description: Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).


name: Huntington disease and related disorders

description: A grouping for Huntington disease and similar diseases.


obstetric disorder

description: Disorder associated with pregnancy, childbirth, and puerperium.


connective tissue disorder

description: A disease involving the connective tissue.


disorder of peroxisomal alpha oxidation

description: Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.


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.


urinary system disorder

description: A disease involving the renal system.


eye degenerative disorder

description: A neurodegenerative disease that involves the eye.


pervasive developmental disorder

description: A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.


SPAST-related motor disorder

description: Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,


SERAC1-related neurological disorder

description: Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene.


corpus uteri neoplasm

description: A neoplasm (disease) that involves the body of uterus.


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).


Creutzfeldt Jacob disease

description: A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.


syndromic craniosynostosis

description: A craniosynostosis that is part of a larger syndrome.


inherited hemoglobinopathy

description: An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.


alternating hemiplegia of childhood

description: A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.


name: high-grade neuroendocrine carcinoma of the cervix uteri

description: High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.


adrenal gland neoplasm

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


skeletal system disorder

description: A disease involving the skeletal system.


endometrioid stromal sarcoma

description: A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.


reproductive system disorder

description: A disease involving the reproductive system.


name: mild phosphoribosylpyrophosphate synthetase superactivity

description: Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.


gonadal disorder

description: A non-neoplastic or neoplastic disorder that affects the testis or the ovary.


steroid inherited metabolic disorder

description: Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.


schizophrenia 16

description: A schizophrenia that has material basis in a mutation on chromosome 7q36.3.


chromosomal disorder

description: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)


name: MELAS syndrome caused by mutation in MTND5

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.


inborn disorder of bile acid synthesis

description: Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.


name: early-onset autosomal dominant Alzheimer disease

description: A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.


name: hyperphenylalaninemia due to DNAJC12 deficiency

description: Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).


familial ovarian cancer

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


mental disorder

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


Bartter syndrome type 4

description: A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.


hypothalamic neoplasm

description: A primary or metastatic neoplasm that affects the hypothalamus.


name: disorder of carnitine cycle and carnitine transport


hereditary peripheral neuropathy

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


rhabdomyosarcoma of the cervix uteri

description: A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.


neurocristopathy

description: That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.


inborn vitamin B12 deficiency

description: Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.


non-syndromic intellectual disability

description: An intellectual disability that is not part of a larger syndrome.


schizophrenia 7

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.


male reproductive system disorder

description: A disease involving the male reproductive system.


GLUT1 deficiency syndrome

description: An epileptic encephalopathy resulting from impaired glucose transport into the brain.


anemia due to enzyme disorder

description: Any form of anemia that results from the absence of, or the defective action of, any enzyme.


neoplasm of mature B-cells

description: A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).


epilepsy, idiopathic generalized

description: A chronic condition characterized by recurrent generalized seizures.


name: autoimmune primary adrenal insufficiency

description: Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.


name: inherited glutathione metabolism disease

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


sleep-wake disorder

description: Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.


endometrial disorder

description: A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.


Antley-Bixler syndrome

description: Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.


name: inborn disorder of biogenic amine metabolism and transport


name: inborn disorder of cobalamin metabolism and transport


hereditary ataxia

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


name: atypical hemolytic-uremic syndrome with H factor anomaly


bullous diffuse cutaneous mastocytosis

description: Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.


name: tetrahydrobiopterin metabolic process disease

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


hemosiderosis

description: Accumulation of iron in internal organs.


name: non-classic congenital lipoid adrenal hyperplasia due to STAR deficency


hereditary motor neuron disease

description: An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.


anterior horn disorder

description: Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.


name: congenital disorder of glycosylation type I

description: A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.


secondary trimethylaminuria

description: A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.


postmenopausal osteoporosis

description: Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.


pyruvate metabolism disorder

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


inherited neurodegenerative disorder

description: An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.


neuromuscular disease

description: Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions


osteosclerotic plasma cell myeloma

description: A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.


schizophrenia 12

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


malignant ovarian cyst

description: A cystic cancerous tumor arising from the ovary.


citrullinemia

description: Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).


pyrimidine metabolism disease

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


name: ichthyosis, X-linked, without steroid sulfatase deficiency


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.


pregnancy associated osteoporosis

description: A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.


rhizomelic chondrodysplasia punctata

description: Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.


familial amyotrophic lateral sclerosis

description: An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.


hereditary epidermal appendage anomaly

description: An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.


name: mitochondrial DNA depletion syndrome, encephalomyopathic form

description: Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.


autosomal dominant disease

description: Autosomal dominant form of disease.


melanocytic skin neoplasm

description: A melanocytic neoplasm that involves the zone of skin.


disorder of orbital region

description: A disease that involves the orbital region.


microcephaly

description: A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.


disorder of visual system

description: A disease that involves the visual system.


vitamin deficiency disorder

description: A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.


name: disorder of galactose and fructose metabolism

description: An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.


name: primitive neuroectodermal tumor of the cervix uteri

description: Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfunctional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.


lysosomal lipid storage disorder

description: An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.


skull neoplasm

description: A benign or malignant neoplasm that affects the bones and structures of the skull.


CPOX-related hereditary coproporphyria

description: Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.


inherited dystonia

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


null syndrome

description: The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.


glycine metabolism disease

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


pyridoxine-dependent epilepsy

description: A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).


name: isolated congenital hypogonadotropic hypogonadism

description: A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.


name: hereditary disorder of connective tissue

description: An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.


inherited sideroblastic anemia

description: An inherited form of sideroblastic anemia.


name: peroxisomal single enzyme/protein defect

description: Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.


name: inborn disorder of methionine cycle and sulfur amino acid metabolism

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


bone development disease

description: A disease involving the bone development.


hereditary photodermatosis

description: Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.


name: adrenocortical hypofunction, chronic primary congenital


name: obesity due to pro-opiomelanocortin deficiency

description: Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.


syndromic dyslipidemia

description: A inherited lipid metabolism disorder that is part of a larger syndrome.


inborn disorder of ornithine metabolism

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


hypothalamic disorder

description: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.


inherited primary ovarian failure

description: An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.


inherited porphyria

description: Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.


paranoid schizophrenia

description: A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.


cerebral creatine deficiency syndrome

description: Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.


hereditary skin disorder

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


hereditary neurological disease

description: A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.


name: neurometabolic disorder due to serine deficiency

description: Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.


neoplastic disease or syndrome

description: Either an isolated neoplasm or a syndrome with neoplasm as a major feature.


neonatal/infantile epilepsy syndrome

description: An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.


integumentary system disorder

description: A disease involving the integumental system.


maternally-inherited Leigh syndrome

description: Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.


precancerous condition

description: A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.


name: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome


familial partial lipodystrophy

description: Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.


name: inborn disorder of the gamma-glutamyl cycle


respiratory system cancer

description: A malignant neoplasm involving the respiratory system


name: inborn disorder of pentose phosphate metabolism


name: combined pituitary hormone deficiencies, genetic form

description: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.


name: endometrioid stromal sarcoma of the vagina

description: A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.


congenital anemia

description: Anemia, the cause of which is present at birth.


name: disorder of mineral absorption and transport


name: familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

description: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).


cervical carcinosarcoma

description: A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.


T-B- severe combined immunodeficiency

description: T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.


adrenal cortex disorder

description: A disease involving the adrenal cortex.


brain neoplasm

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


Imerslund-Grasbeck syndrome

description: Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.


hereditary macular dystrophy

description: Macular dystrophy that is related to a change in a gene.


upper digestive tract disorder

description: A disease or disorder that involves the upper digestive tract.


bone remodeling disease

description: A bone disease that results in formation or resorption abnormalities located in bone.


name: inborn disorder of purine or pyrimidine metabolism


name: mitochondrial membrane transport disorder


name: orotic aciduria without megaloblastic anemia


name: disorder of beta and omega amino acid metabolism


inherited pseudohypoaldosteronism

description: A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology.


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: neonatal-onset developmental and epileptic encephalopathy

description: A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.


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.


name: MELAS syndrome caused by mutation in MTTS2

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.


urea cycle disorder

description: A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.


name: gamma-amino butyric acid metabolism disorder

description: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.


name: urea cycle disorder or inherited hyperammonemia

description: A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).


name: MELAS syndrome caused by mutation in MTTK

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


name: hereditary site-specific ovarian cancer syndrome

description: Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.


cervix disorder

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


severe Canavan disease

description: Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.


name: malignant Sertoli-Leydig cell tumor of ovary

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


hereditary narcolepsy

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


skull disorder

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


congenital nervous system disorder

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


riboflavin transporter deficiency

description: A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.


primary adrenal insufficiency

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


name: MELAS syndrome caused by mutation in MTND6

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


autosomal recessive cerebellar ataxia

description: Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.


Friedreich ataxia

description: An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.


X-linked cerebral adrenoleukodystrophy

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


name: frontotemporal dementia, right temporal atrophy variant

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


name: Pelizaeus-Merzbacher disease, connatal form

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


mitochondrial encephalomyopathy

description: A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)


musculoskeletal system disorder

description: A disease involving the musculoskeletal system.


name: MELAS syndrome caused by mutation in MTTH

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


name: polyarticular juvenile rheumatoid arthritis


myopathy

description: A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.


inborn vitamin metabolic disorder

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


skeletal dysplasia

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


bone inflammation disease

description: Inflammation of the bone.


cranial nerve neuropathy

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


dysostosis

description: A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.


acute disease

description: Disease having a short and relatively severe course.


CTSC-related disorder

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


name: behavioral variant of frontotemporal dementia

description: Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.


name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia

description: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.


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.


thalamic disorder

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


tricarboxylic acid cycle disorder

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


familial Alzheimer disease

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


nutritional deficiency disease

description: A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)


ocular vascular disorder

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


plasma cell neoplasm

description: A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.


name: metachromatic leukodystrophy, late infantile form


cerebellar disorder

description: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.


overnutrition

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


inherited kidney disorder

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


X-linked recessive disease

description: X-linked recessive form of disease.


leukocyte disorder

description: A disease involving leukocytes.


name: severe phosphoribosylpyrophosphate synthetase superactivity

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


name: MELAS syndrome caused by mutation in MTTL1

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


posterior cerebral artery infarction

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


nervous system neoplasm

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


metabolic disease

description: A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.


name: MELAS syndrome caused by mutation in MTTS1

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


name: inborn disorder of aspartate family metabolism

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


mild phenylketonuria

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


respiratory system disorder

description: A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.


leiomyosarcoma of the cervix uteri

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


name: inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

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


adult-onset citrullinemia type I

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


immune system disorder

description: A disorder resulting from an abnormality in the immune system.


name: peroxisome biogenesis disorder due to PEX7 defect

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


name: adrenocortical unresponsiveness to ACTH with postreceptor defect


steroid metabolism disease

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


inborn disorder of porphyrin metabolism

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


juvenile Huntington disease

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


name: inborn mitochondrial metabolism disorder

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


neurovascular disorder

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


schizophrenia 8

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


name: inborn disorder of lysosomal amino acid transport


uterine disorder

description: A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.


cancer or benign tumor

description: Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.


description: Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.


skull base neoplasm

description: A benign or malignant neoplasm that affects the skull base.


disorder of peroxisomal transporter

description: Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


metachromatic leukodystrophy

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


name: multiple congenital anomalies/dysmorphic syndrome


creatine biosynthetic process disease

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


sulfur metabolism disease

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


name: congenital nonspherocytic hemolytic anemia

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


hereditary cerebellar ataxia

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


complex neurodevelopmental disorder

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


sporadic Creutzfeldt-Jakob disease

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


LCAT deficiency

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


malignant essential hypertension

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


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency


eyelid disorder

description: A disease involving the eyelid.


name: myopathy, lactic acidosis, and sideroblastic anemia

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


lysosomal storage disease

description: A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.


familial primary hypomagnesemia

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


cervical alveolar soft part sarcoma

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


bone resorption disease

description: A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.


hereditary lipodystrophy

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


benign neoplasm

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


connective tissue neoplasm

description: Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.


hyperinsulinemic hypoglycemia

description: An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.


name: encephalopathy due to sulfite oxidase deficiency

description: Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.


dihydropteridine reductase deficiency

description: Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.


perceptual disorders

description: Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.


name: infectious disorder of the nervous system

description: A infectious disease that involves the nervous system.


P5CS deficiency

description: An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.


endometrium neoplasm

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


citrin deficiency

description: Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).


name: inborn disorder of branched-chain amino acid metabolism

description: An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.


malignant neoplasm of endocervix

description: A cancer that involves the endocervix.


glucose metabolism disease

description: A metabolic disorder characterized by abnormal blood glucose levels.


name: vitamin B12- and folate-independent constitutional megaloblastic anemia


name: endometrioid stromal sarcoma of the cervix

description: A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.


name: pyruvate carboxylase deficiency, infantile form

description: Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.


name: inherited fatty acid metabolism disorder

description: A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.


name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

description: The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.


erythrocyte disorder

description: A disease or disorder that involves the erythrocyte.


non-secretory plasma cell myeloma

description: A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.


name: disorder of peptide and amine metabolism

description: An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.


mild Canavan disease

description: Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.


cancer-related condition

description: A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).


sphingolipidosis

description: An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.


name: mitochondrial substrate carrier disorder


name: recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome

description: Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.


name: multiple congenital anomalies/dysmorphic syndrome-intellectual disability


inborn disorder of bilirubin metabolism

description: An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.


tauopathy

description: Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.


idiopathic disease

description: A disease or disorder for which the cause is of uncertain or unknown.


anxiety disorder

description: A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.


cerebrovascular disorder

description: A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.


treatment-refractory schizophrenia

description: Schizophrenia which does not respond to commonly used treatments.


congenital structural myopathy

description: A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.


cholesterol metabolism disease

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


uterine ligament adenosarcoma

description: An extremely rare adenosarcoma that arises from the uterine ligament.


name: osteogenesis imperfecta and a reduction of bone mineral density.

description: A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.


inborn disorder of proline metabolism

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


heart disorder

description: A disease involving the heart and/or pericardium.