learn3r/SDG_scimed · Datasets at Hugging Face

jargon stringlengths 6 64	definition stringlengths 82 426
Doyne honeycomb retinal dystrophy	Doyne honeycomb retinal dystrophy is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium.
Tularemia	Tularemia is an infection common in wild rodents caused by the bacterium Francisella tularensis. Symptoms include fever, skin ulcers, and enlarged lymph nodes.
Celiac Disease	Celiac disease is an immune disorder in which people cannot tolerate gluten because it damages the inner lining of their small intestine and prevents it from absorbing nutrients.
Spondyloepiphyseal dysplasia Maroteaux type	Spondyloepiphyseal dysplasia Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees).
Hepatoblastoma	Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life.
Epithelial basement membrane corneal dystrophy	Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material.
Usher syndrome	Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa.
Floating-Harbor syndrome	Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features.
Neuronal ceroid lipofuscinosis 9	Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms may include loss of muscle coordination, seizures that do not respond to medications, muscle twitches, visual impairment, and developmental regression.
Prune belly syndrome	Prune belly syndrome is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like"; (2) undescended testicles in males; and (3) urinary tract problems.
glycogen storage disease type VI	Glycogen storage disease type VI is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells.
Craniopharyngioma	A craniopharyngioma is a slow-growing benign tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves).
desmosterolosis	Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.
Hereditary angioedema	Hereditary angioedema is a disorder that results in recurrent attacks of severe swelling. The swelling most commonly affects the arms, legs, face, intestinal tract, and airway.
geleophysic dysplasia	Geleophysic dysplasia is a progressive condition resembling a lysosomal storage disorder characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin.
Pseudoachondroplasia	Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature.
Shprintzen-Goldberg syndrome	Shprintzen–Goldberg syndrome is a congenital multiple-anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features.
monilethrix	Monilethrix is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded.
citrullinemia	Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood.
X-linked infantile spasm syndrome	X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms.
hereditary xanthinuria	Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine.
Malignant peripheral nerve sheath tumor	Malignant Peripheral Nerve Sheath Tumor is a cancer of the cells that form the sheath that covers and protects peripheral nerves. It grows in the soft tissues of the body or other tissue that connects and supports the body.
otopalatodigital syndrome type 1	Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development.
Stargardt disease	Stargardt disease is a rare genetic eye disease that happens when fatty material builds up on the macula, the small part of the retina needed for sharp, central vision.
Partington syndrome	Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands.
Genoa syndrome	Genoa syndrome is a rare condition that primarily affects the brain and skull. Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres.
Tranebjaerg Svejgaard syndrome	Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It is a type of X-linked syndromic intellectual disability.
cryptogenic cirrhosis	Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid to late adulthood.
Noonan syndrome	Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. It may occur in mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations.
Chromosome 16p13.3 deletion syndrome	Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3.
46,XX testicular disorder of sex development	46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance.
familial pityriasis rubra pilaris	Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. Affected individuals have a salmon-colored skin rash covered in fine scales.
Norovirus Infections	Norovirus infection is caused by nonenveloped, single-stranded RNA viruses of the genus, and can cause severe vomiting and diarrhea that start suddenly.
Aplasia cutis congenita	Aplasia cutis congenita is a condition in which there is congenital absence of skin, with or without the absence of underlying structures such as bone.
22q11.2 deletion syndrome	22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.
Marinesco-Sjgren syndrome	Marinesco-Sjgren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjgren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood.
Carney complex	Carney complex is a hereditary condition associated with spotty skin pigmentation, myxomas, which are benign connective tissue tumors, and a number of other tumors of the endocrine glands.
Metabolic Panel	Metabolic panel is a blood test that gives doctors information about the body's fluid balance, levels of electrolytes like sodium and potassium, and how well the kidneys and liver are working.
androgen insensitivity syndrome	Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty.
Netherton syndrome	Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid.
Tracheobronchomalacia	Tracheobronchomalacia (TBM) is a rare condition that occurs when the tissue that makes up the windpipe, or trachea, is soft and weak.
Hemangioma thrombocytopenia syndrome	Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas.
Knee Injuries and Disorders	Knee Injuries and Disorders occur when any of the knee joint structures is hurt or diseased.
Hereditary elliptocytosis	Hereditary elliptocytosis is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape.
Centronuclear myopathy	Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery.
Aromatic L-amino acid decarboxylase deficiency	Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system.
long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food.
Ocular cicatricial pemphigoid	Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes.
Subcortical band heterotopia	Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development.
Andersen-Tawil syndrome	Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness, changes in heart rhythm, and developmental abnormalities.
adermatoglyphia	Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet.
Plague	Plague is an infectious disease caused by the bacteria Yersinia pestis, a zoonotic bacteria, usually found in small mammals and their fleas.
Craniofacial Abnormalities	Craniofacial anomalies are deformities that affect a child’s head and facial bones.
Krabbe disease	Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroy brain cells.
Pancreatic Cancer	Pancreatic cancer is a disease in which malignant cells form in the tissues of the pancreas.
pachyonychia congenita	Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain.
Childhood Non-Hodgkin Lymphoma	Childhood non-Hodgkin lymphoma is a disease in which malignant cells form in the lymph system. There are two main types: B-cell NHL, which usually affects the abdomen, head or neck, and T-cell NHL which usually occurs in the chest.
lamellar ichthyosis	Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane.
Pilocytic astrocytoma	Pilocytic astrocytoma is a type of brain tumor that originates from star-shaped cells called astrocytes. It is low-grade glioma, slow-growing tumor that arises from glial cells.
Succinic semialdehyde dehydrogenase deficiency	Succinic semialdehyde dehydrogenase (SSADH) deficiency is disorder that can cause a variety of neurological and neuromuscular problems.
Leukemia	Leukemia is cancer of the body's blood-forming tissues, including the bone marrow and the lymphatic system.
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells.
Familial hemiplegic migraine	Familial hemiplegic migraine (FHM) is an inherited form of hemiplegic migraine. Hemiplegic migraine is a type of migraine with aura that causes motor impairment in addition to at least one visual, sensory, or speech disturbance that occurs before the migraine headache begins.
Interstitial Cystitis	Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and a need to urinate frequently and urgently.
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps, intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.
Ulcerative Colitis	Ulcerative colitis is an inflammatory bowel disease (IBD) that causes inflammation and ulcers (sores) in your digestive tract.
Hyper-IgD syndrome	Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain.
Rickets	Rickets is a condition that results in weak or soft bones in children, and is caused by either dietary deficiency or genetic causes.
15q13.3 microduplication syndrome	A 15q13.3 microduplication is a very rare genetic condition in which there is a tiny extra piece of one of the 46 chromosomes – chromosome 15.
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate.
Trigeminal Trophic Syndrome	Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve.
Barotrauma	Barotrauma means injury to your body because of changes in barometric (air) or water pressure.
Landau-Kleffner syndrome	Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG).
Charcot-Marie-Tooth disease type 1A	Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves.
Sciatica	Sciatica is where the sciatic nerve, which runs from your lower back to your feet, is irritated or compressed.
Hereditary hemorrhagic telangiectasia	Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding.
Limited cutaneous systemic sclerosis	Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms.
Hypotonia	Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.
Idiopathic neutropenia	Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown.
Gordon syndrome	Gordon Syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate.
Warm antibody hemolytic anemia	Warm autoimmune hemolytic anemia (wAIHA) is an autoimmune disorder characterized by the premature destruction of healthy red blood cells (hemolysis).
Herpes simplex encephalitis	Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis).
Giant axonal neuropathy	Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses).
acromicric dysplasia	Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.
Hairy Cell Leukemia	Hairy cell leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell).
Gorlin syndrome	Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.
Asbestos-Related Lung Diseases	Asbestos-related lung diseases are diseases caused by exposure to asbestos fibers.
collagen VI-related myopathy	Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body).
renal tubular acidosis with deafness	Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss.
GM3 synthase deficiency	GM3 synthase deficiency is characterized by recurrent seizures and problems with brain development.
Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis	Microscopic colitis is a chronic inflammatory bowel disease (IBD) in which abnormal reactions of the immune system cause inflammation of the inner lining of your colon.
La Crosse encephalitis	La Crosse encephalitis is a viral illness that is transmitted to people through the bite of an infected mosquito.
Cerebral Hypoxia	Cerebral hypoxia refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow.
metachromatic leukodystrophy	Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells.
Fabry disease	Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3.
catecholaminergic polymorphic ventricular tachycardia	Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac condition that causes sudden rhythm disturbances, called arrhythmias, in otherwise healthy children. These abnormal rhythms most often occur at times of high adrenaline levels, such as during exercise or strong emotion.
Wyburn Mason's syndrome	Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain.
Fowler's syndrome	Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease.
Hypolipoproteinemia	Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract.
Asperger syndrome	Asperger syndrome (AS) is an autism spectrum disorder, a type of neurological condition characterized by impaired language and communication skills, and repetitive or restrictive thought and behavior patterns.

Doyne honeycomb retinal dystrophy

Doyne honeycomb retinal dystrophy is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium.

Tularemia

Tularemia is an infection common in wild rodents caused by the bacterium Francisella tularensis. Symptoms include fever, skin ulcers, and enlarged lymph nodes.

Celiac Disease

Celiac disease is an immune disorder in which people cannot tolerate gluten because it damages the inner lining of their small intestine and prevents it from absorbing nutrients.

Spondyloepiphyseal dysplasia Maroteaux type

Spondyloepiphyseal dysplasia Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees).

Hepatoblastoma

Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life.

Epithelial basement membrane corneal dystrophy

Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material.

Usher syndrome

Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa.

Floating-Harbor syndrome

Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features.

Neuronal ceroid lipofuscinosis 9

Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms may include loss of muscle coordination, seizures that do not respond to medications, muscle twitches, visual impairment, and developmental regression.

Prune belly syndrome

Prune belly syndrome is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like"; (2) undescended testicles in males; and (3) urinary tract problems.

glycogen storage disease type VI

Glycogen storage disease type VI is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells.

Craniopharyngioma

A craniopharyngioma is a slow-growing benign tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves).

desmosterolosis

Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.

Hereditary angioedema

Hereditary angioedema is a disorder that results in recurrent attacks of severe swelling. The swelling most commonly affects the arms, legs, face, intestinal tract, and airway.

geleophysic dysplasia

Geleophysic dysplasia is a progressive condition resembling a lysosomal storage disorder characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin.

Pseudoachondroplasia

Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature.

Shprintzen-Goldberg syndrome

Shprintzen–Goldberg syndrome is a congenital multiple-anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features.

monilethrix

Monilethrix is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded.

citrullinemia

Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood.

X-linked infantile spasm syndrome

X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms.

hereditary xanthinuria

Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine.

Malignant peripheral nerve sheath tumor

Malignant Peripheral Nerve Sheath Tumor is a cancer of the cells that form the sheath that covers and protects peripheral nerves. It grows in the soft tissues of the body or other tissue that connects and supports the body.

otopalatodigital syndrome type 1

Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development.

Stargardt disease

Stargardt disease is a rare genetic eye disease that happens when fatty material builds up on the macula, the small part of the retina needed for sharp, central vision.

Partington syndrome

Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands.

Genoa syndrome

Genoa syndrome is a rare condition that primarily affects the brain and skull. Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres.

Tranebjaerg Svejgaard syndrome

Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It is a type of X-linked syndromic intellectual disability.

cryptogenic cirrhosis

Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid to late adulthood.

Noonan syndrome

Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. It may occur in mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations.

Chromosome 16p13.3 deletion syndrome

Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3.

46,XX testicular disorder of sex development

46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance.

familial pityriasis rubra pilaris

Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. Affected individuals have a salmon-colored skin rash covered in fine scales.

Norovirus Infections

Norovirus infection is caused by nonenveloped, single-stranded RNA viruses of the genus, and can cause severe vomiting and diarrhea that start suddenly.

Aplasia cutis congenita

Aplasia cutis congenita is a condition in which there is congenital absence of skin, with or without the absence of underlying structures such as bone.

22q11.2 deletion syndrome

22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.

Marinesco-Sjgren syndrome

Marinesco-Sjgren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjgren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood.

Carney complex

Carney complex is a hereditary condition associated with spotty skin pigmentation, myxomas, which are benign connective tissue tumors, and a number of other tumors of the endocrine glands.

Metabolic Panel

Metabolic panel is a blood test that gives doctors information about the body's fluid balance, levels of electrolytes like sodium and potassium, and how well the kidneys and liver are working.

androgen insensitivity syndrome

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty.

Netherton syndrome

Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid.

Tracheobronchomalacia

Tracheobronchomalacia (TBM) is a rare condition that occurs when the tissue that makes up the windpipe, or trachea, is soft and weak.

Hemangioma thrombocytopenia syndrome

Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas.

Knee Injuries and Disorders

Knee Injuries and Disorders occur when any of the knee joint structures is hurt or diseased.

Hereditary elliptocytosis

Hereditary elliptocytosis is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape.

Centronuclear myopathy

Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery.

Aromatic L-amino acid decarboxylase deficiency

Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system.

long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food.

Ocular cicatricial pemphigoid

Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes.

Subcortical band heterotopia

Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development.

Andersen-Tawil syndrome

Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness, changes in heart rhythm, and developmental abnormalities.

adermatoglyphia

Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet.

Plague

Plague is an infectious disease caused by the bacteria Yersinia pestis, a zoonotic bacteria, usually found in small mammals and their fleas.

Craniofacial Abnormalities

Craniofacial anomalies are deformities that affect a child’s head and facial bones.

Krabbe disease

Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroy brain cells.

Pancreatic Cancer

Pancreatic cancer is a disease in which malignant cells form in the tissues of the pancreas.

pachyonychia congenita

Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain.

Childhood Non-Hodgkin Lymphoma

Childhood non-Hodgkin lymphoma is a disease in which malignant cells form in the lymph system. There are two main types: B-cell NHL, which usually affects the abdomen, head or neck, and T-cell NHL which usually occurs in the chest.

lamellar ichthyosis

Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane.

Pilocytic astrocytoma

Pilocytic astrocytoma is a type of brain tumor that originates from star-shaped cells called astrocytes. It is low-grade glioma, slow-growing tumor that arises from glial cells.

Succinic semialdehyde dehydrogenase deficiency

Succinic semialdehyde dehydrogenase (SSADH) deficiency is disorder that can cause a variety of neurological and neuromuscular problems.

Leukemia

Leukemia is cancer of the body's blood-forming tissues, including the bone marrow and the lymphatic system.

Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells.

Familial hemiplegic migraine

Familial hemiplegic migraine (FHM) is an inherited form of hemiplegic migraine. Hemiplegic migraine is a type of migraine with aura that causes motor impairment in addition to at least one visual, sensory, or speech disturbance that occurs before the migraine headache begins.

Interstitial Cystitis

Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and a need to urinate frequently and urgently.

Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps, intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.

Ulcerative Colitis

Ulcerative colitis is an inflammatory bowel disease (IBD) that causes inflammation and ulcers (sores) in your digestive tract.

Hyper-IgD syndrome

Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain.

Rickets

Rickets is a condition that results in weak or soft bones in children, and is caused by either dietary deficiency or genetic causes.

15q13.3 microduplication syndrome

A 15q13.3 microduplication is a very rare genetic condition in which there is a tiny extra piece of one of the 46 chromosomes – chromosome 15.

Pelizaeus-Merzbacher Disease

Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate.

Trigeminal Trophic Syndrome

Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve.

Barotrauma

Barotrauma means injury to your body because of changes in barometric (air) or water pressure.

Landau-Kleffner syndrome

Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG).

Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves.

Sciatica

Sciatica is where the sciatic nerve, which runs from your lower back to your feet, is irritated or compressed.

Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding.

Limited cutaneous systemic sclerosis

Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms.

Hypotonia

Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.

Idiopathic neutropenia

Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown.

Gordon syndrome

Gordon Syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate.

Warm antibody hemolytic anemia

Warm autoimmune hemolytic anemia (wAIHA) is an autoimmune disorder characterized by the premature destruction of healthy red blood cells (hemolysis).

Herpes simplex encephalitis

Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis).

Giant axonal neuropathy

Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses).

acromicric dysplasia

Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.

Hairy Cell Leukemia

Hairy cell leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell).

Gorlin syndrome

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.

Asbestos-Related Lung Diseases

Asbestos-related lung diseases are diseases caused by exposure to asbestos fibers.

collagen VI-related myopathy

Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body).

renal tubular acidosis with deafness

Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss.

GM3 synthase deficiency

GM3 synthase deficiency is characterized by recurrent seizures and problems with brain development.

Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis

Microscopic colitis is a chronic inflammatory bowel disease (IBD) in which abnormal reactions of the immune system cause inflammation of the inner lining of your colon.

La Crosse encephalitis

La Crosse encephalitis is a viral illness that is transmitted to people through the bite of an infected mosquito.

Cerebral Hypoxia

Cerebral hypoxia refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow.

metachromatic leukodystrophy

Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells.

Fabry disease

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3.

catecholaminergic polymorphic ventricular tachycardia

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac condition that causes sudden rhythm disturbances, called arrhythmias, in otherwise healthy children. These abnormal rhythms most often occur at times of high adrenaline levels, such as during exercise or strong emotion.

Wyburn Mason's syndrome

Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain.

Fowler's syndrome

Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease.

Hypolipoproteinemia

Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract.

Asperger syndrome

Asperger syndrome (AS) is an autism spectrum disorder, a type of neurological condition characterized by impaired language and communication skills, and repetitive or restrictive thought and behavior patterns.