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Encyclopedia > List of genetic disorders

Contents

The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of fertilization and the chromosome involved. A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... Categories: Biology stubs ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ...

A point mutation, or substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide. ... For a non-technical introduction to the topic, see Introduction to Genetics. ... A genetic deletion is a genetic aberration in which part of a chromosome is missing. ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, expansion disorders or codon reiteration disorders) are due to stretches of DNA in a gene that contain the same trinucleotide sequence repeated many times. ...

Common disorders

Disorder Mutation Chromosome
22q11.2 deletion syndrome D 22q
Angelman syndrome DCP 15
Canavan disease 17p
Celiac disease
Charcot-Marie-Tooth disease
Color blindness P X
Cri du Chat D 5
Cystic fibrosis P 7q
Down syndrome C 21
Duchenne muscular dystrophy D Xp
Hemophilia P X
Klinefelter syndrome C X
Neurofibromatosis 17q/22q/?
Phenylketonuria P 12q
Prader-Willi syndrome DC 15
Sickle-cell disease P 11p
Spina bifida P 1
Tay-Sachs disease P 15
Turner syndrome C X

22q11. ... Angelman Syndrome (AS) is a rare neuro-genetic disorder named after an English pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Coeliac disease (also termed non-tropical sprue, celiac disease and gluten intolerance) is an autoimmune disease characterised by chronic inflammation of the proximal portion of the small intestine caused by exposure to certain dietary gluten proteins. ... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Color blindness in humans is the inability to perceive differences between some or all colors that other people can distinguish. ... This article does not cite any references or sources. ... Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an eventually fatal disorder that is characterized by rapidly progressive muscle weakness and atrophy of muscle tissue starting in the legs and pelvis and later affecting the whole body. ... Haemophilia or hemophilia is the name of any of several hereditary genetic illnesses that impair the bodys ability to control bleeding. ... XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... Neurofibromatosis is an autosomal dominant genetic disorder. ... PhenylKetonUria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). ... Prader-Willi syndrome is a genetic disorder, in which seven genes (or some subset thereof) on chromosome 15 are missing or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. ... Sickle-cell disease is a group of genetic disorders caused by sickle hemoglobin (Hgb S or Hb S). ... Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in all forms. ...

0–9

Disorder Mutation Chromosome
18p deletion syndrome D 18p
21-hydroxylase deficiency 6p21.3
45,X
see Turner syndrome
C X
47,XX,+21
see Down syndrome
C 21
47,XXX
see triple X syndrome
C X
47,XXY
see Klinefelter syndrome
C X
47,XY,+21
see Down syndrome
C 21
47,XYY syndrome C Y
5-ALA dehydratase-deficient porphyria
see ALA dehydratase deficiency
5-aminolaevulinic dehydratase deficiency porphyria
see ALA dehydratase deficiency
5p deletion syndrome
see Cri du chat
D 5p
5p- syndrome
see Cri du chat
D 5p

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ... Turner syndrome is a human genetic abnormality, caused by a nondisjunction in the sex chromosomes that occur to females (1 out of every 2,500 births). ... Down syndrome or trisomy 21 (British Downs syndrome) is a genetic condition resulting from the presence of all or part of an extra 21st chromosome. ... Triple X syndrome is a chromosomal aneuploid abnormality characterized by the presence of an extra X chromosome in each cell of a human female. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... Down syndrome or trisomy 21 (British Downs syndrome) is a genetic condition resulting from the presence of all or part of an extra 21st chromosome. ... XYY, or XYY syndrome, is a trisomy of the sex chromosomes in which a human male receives an extra Y chromosome in each cell, hence having a karyotype of 47,XYY. Effects Physical traits XYY syndrome typically causes no unusual physical features or medical problems. ... ALA (D-Aminolevulinic acid} dehydratase deficiency is a type of hepatic porphyria. ... ALA (D-Aminolevulinic acid} dehydratase deficiency is a type of hepatic porphyria. ... This article does not cite any references or sources. ... This article does not cite any references or sources. ...

A

Disorder Mutation Chromosome
A-T
see ataxia-telangiectasia
AAT
see alpha-1 antitrypsin deficiency
Absence of vas deferens
see congenital bilateral absence of vas deferens
Absent vasa
see congenital bilateral absence of vas deferens
aceruloplasminemia
ACG2
see achondrogenesis type II
ACH
see achondroplasia
Achondrogenesis type II
achondroplasia substitution 4p16.3
Acid beta-glucosidase deficiency
see Gaucher disease type 1
Acrocephalosyndactyly (Apert)
see Apert syndrome
acrocephalosyndactyly, type V
see Pfeiffer syndrome
Acrocephaly
see Apert syndrome
Acute cerebral Gaucher's disease
see Gaucher disease type 2
acute intermittent porphyria
ACY2 deficiency
see Canavan disease
AD
Adelaide-type craniosynostosis
see Muenke syndrome
Adenomatous Polyposis Coli
see familial adenomatous polyposis
Adenomatous Polyposis of the Colon
see familial adenomatous polyposis
ADP
see ALA dehydratase deficiency
adenylosuccinate lyase deficiency
Adrenal gland disorders
see 21-hydroxylase deficiency
Adrenogenital syndrome
see 21-hydroxylase deficiency
Adrenoleukodystrophy
AIP
see acute intermittent porphyria
AIS
see androgen insensitivity syndrome
AKU
see alkaptonuria
ALA dehydratase porphyria
see ALA dehydratase deficiency
ALA-D porphyria
see ALA dehydratase deficiency
ALA dehydratase deficiency
Alcaptonuria
see alkaptonuria
Alexander disease
alkaptonuria
Alkaptonuric ochronosis
see alkaptonuria
alpha-1 antitrypsin deficiency 14q32.1
alpha-1 proteinase inhibitor
see alpha-1 antitrypsin deficiency
14q32.1
alpha-1 related emphysema
see alpha-1 antitrypsin deficiency
14q32.1
Alpha-galactosidase A deficiency
see Fabry disease
P Xq22.1
ALS
see amyotrophic lateral sclerosis
Alstrom syndrome
ALX
see Alexander disease
Alzheimer disease
Alzheimer's disease
see Alzheimer disease
Amelogenesis Imperfecta
see Amelogenesis imperfecta
Amino levulinic acid dehydratase deficiency
see ALA dehydratase deficiency
Aminoacylase 2 deficiency
see Canavan disease
amyotrophic lateral sclerosis
Anderson-Fabry disease
see Fabry disease
P Xq22.1
androgen insensitivity syndrome
Anemia
Anemia, hereditary sideroblastic
see X-linked sideroblastic anemia
X
Anemia, sex-linked hypochromic sideroblastic
see X-linked sideroblastic anemia
X
Anemia, splenic, familial
see Gaucher disease
Angelman syndrome
Angiokeratoma Corporis Diffusum
see Fabry's disease
P Xq22.1
Angiokeratoma diffuse
see Fabry's disease
Angiomatosis retinae
see von Hippel-Lindau disease
ANH1
see X-linked sideroblastic anemia
X
APC resistance, Leiden type
see factor V Leiden thrombophilia
Apert syndrome
AR deficiency
see androgen insensitivity syndrome
AR-CMT2
see Charcot-Marie-Tooth disease, type 2
Arachnodactyly
see Marfan syndrome
ARNSHL
see Nonsyndromic deafness#autosomal recessive
Arthro-ophthalmopathy, hereditary progressive
see Stickler syndrome#COL2A1
Arthrochalasis multiplex congenita
see Ehlers-Danlos syndrome#arthrochalasia type
AS
see Angelman syndrome
Asp deficiency
see Canavan disease
Aspa deficiency
see Canavan disease
Aspartoacylase deficiency
see Canavan disease
ataxia-telangiectasia
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome
see Rett syndrome
autosomal dominant juvenile ALS
see amyotrophic lateral sclerosis, type 4
Autosomal dominant opitz G/BBB syndrome
see 22q11.2 deletion syndrome
D 22q
autosomal recessive form of juvenile ALS type 3
see Amyotrophic lateral sclerosis#type 2
Autosomal recessive nonsyndromic hearing loss
see Nonsyndromic deafness#autosomal recessive
Autosomal Recessive Sensorineural Hearing Impairment and Goiter
see Pendred syndrome
AxD
see Alexander disease
Ayerza syndrome
see primary pulmonary hypertension

Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). ... Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). ... AAT can mean: Australian Antarctic Territory AAT, an aircraft manufacturer of the 1940s; see List of aircraft manufacturers A Achanalt railway station (rail code AAT) Australian Administrative Appeals Tribunal Altay Airport (IATA airport code: AAT) in Altay, Xinjiang, China Alturas Municipal Airport (IATA airport code: AAT) in Alturas, California, United... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ... This article belongs in one or more categories. ... This article belongs in one or more categories. ... This article belongs in one or more categories. ... This article belongs in one or more categories. ... Aceruloplasminemia is inherited in an autosomal recessive fashion. ... Achondrogenesis, type 2 is a severe, inherited disorder of bone growth. ... Achondrogenesis is a number of disorders which are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). ... Circus Busch, 1906 Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. ... Circus Busch, 1906 Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. ... Achondrogenesis is a number of disorders which are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). ... Circus Busch, 1906 Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Apert Syndrome, virtually synonymous with Acrocephalosyndactyly, is a branchial arch syndrome, characterized by a number of clinical features, resulting from a developmental anomaly. ... This article does not cite any references or sources. ... Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. ... Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. ... Apert Syndrome, virtually synonymous with Acrocephalosyndactyly, is a branchial arch syndrome, characterized by a number of clinical features, resulting from a developmental anomaly. ... This article does not cite any references or sources. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Alzheimers disease (AD), also known simply as Alzheimers, is a neurodegenerative disease that, in its most common form, is found in people over age 65. ... Muenke Syndrome, also known as FGFR3-related craniosynostosis,[1] is a condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... ALA (D-Aminolevulinic acid} dehydratase deficiency is a type of hepatic porphyria. ... Adenylosuccinate lyase deficiency is a heritable deficiency which is characterized by the appearance of succinylaminoimidazolecarboxamide riboside (SAICAriboside) and succinyladenosine (S-Ado) in cerebrospinal fluid, urine, and to a lesser extent in plasma. ... In mammals, the adrenal glands (also known as suprarenal glands) are the triangle-shaped endocrine glands that sit on top of the kidneys; their name indicates that position (ad-, near or at + -renes, kidneys). They are chiefly responsible for regulating the stress response through the synthesis of corticosteroids and catecholamines... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ... Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ... Adrenoleukodystrophy (ALD) is a degenerative disorder of myelin, a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. ... Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ... Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ... Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ... ALA (D-Aminolevulinic acid} dehydratase deficiency is a type of hepatic porphyria. ... ALA (D-Aminolevulinic acid} dehydratase deficiency is a type of hepatic porphyria. ... ALA (D-Aminolevulinic acid} dehydratase deficiency is a type of hepatic porphyria. ... Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ... Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ... Alexander disease is a slowly progressing fatal neurodegenerative disease. ... Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ... Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. ... Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ... Fabry disease (also known as Anderson-Fabry disease,Angiokeratoma corporis diffusum, Ceramide trihexosidosis, and Sweeley-Klionsky disease) is an X-linked recessive inherited lysosomal storage disease. ... Fabrys disease (also known as Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum and Hereditary Dystopic Lipidosis) is a lysosomal storage disease resulting from an X-linked mutation. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Alström syndrome is a rare genetic disorder. ... ALX is a three-letter abbreviation with multiple meanings, as described below: The National Rail code for Alexandria railway station, United Kingdom. ... Alexander disease is a slowly progressing fatal neurodegenerative disease. ... Amelogenesis Imperfecta is an inherited condition that presents abnormal formation of the enamel or external layer of teeth. ... Amelogenesis Imperfecta is an inherited condition that presents abnormal formation of the enamel or external layer of teeth. ... ALA (D-Aminolevulinic acid} dehydratase deficiency is a type of hepatic porphyria. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Fabry disease (also known as Anderson-Fabry disease,Angiokeratoma corporis diffusum, Ceramide trihexosidosis, and Sweeley-Klionsky disease) is an X-linked recessive inherited lysosomal storage disease. ... Fabrys disease (also known as Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum and Hereditary Dystopic Lipidosis) is a lysosomal storage disease resulting from an X-linked mutation. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Anemia (AmE) or anæmia (BrE), from the Greek () meaning without blood, is a deficiency of red blood cells (RBCs) and/or hemoglobin. ... For the poem by Robert Browning see Porphyrias Lover. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... For the poem by Robert Browning see Porphyrias Lover. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... Angelman Syndrome (AS) is a rare neuro-genetic disorder named after an English pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. ... Fabry disease (also known as Anderson-Fabry disease,Angiokeratoma corporis diffusum, Ceramide trihexosidosis, and Sweeley-Klionsky disease) is an X-linked recessive inherited lysosomal storage disease. ... Fabry disease (also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, Ceramide trihexosidosis, and Sweeley-Klionsky disease) is an X-linked recessive inherited lysosomal storage disease. ... Fabry disease (also known as Anderson-Fabry disease,Angiokeratoma corporis diffusum, Ceramide trihexosidosis, and Sweeley-Klionsky disease) is an X-linked recessive inherited lysosomal storage disease. ... Fabry disease (also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, Ceramide trihexosidosis, and Sweeley-Klionsky disease) is an X-linked recessive inherited lysosomal storage disease. ... Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ... Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ... For the poem by Robert Browning see Porphyrias Lover. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Factor V Leiden (sometimes Factor VLeiden) is the name given to a variant of human factor V that causes a hypercoagulability disorder. ... Factor V Leiden (sometimes Factor VLeiden) is a hypercoagulability disorder in which Factor V, one of the coagulation factors, cannot be deactivated. ... This article does not cite any references or sources. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Charcot-Marie-Tooth disease, also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in... To meet Wikipedias quality standards, this article may require cleanup. ... Marfan syndrome is a connective tissue disorder, affecting many structures, including the skeleton, lungs, eyes, heart and blood vessels. ... Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue characterized by disproportionately long limbs, long thin fingers, a relatively tall stature, and a predisposition to cardiovascular abnormalities, specifically those affecting the heart valves and aorta. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ... // AS, As, aS, or as may stand for: AS Acquisition strategy, a High-level business and technical management approach designed to achieve program objectives within specified resource constraints. ... Angelman Syndrome (AS) is a rare neuro-genetic disorder named after an English pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). ... To meet Wikipedias quality standards, this article or section may require cleanup. ... A woman with Retts Syndrome Rett syndrome is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. Many [1] argue that this is a mis-classification just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down... 22q11. ... 22q11. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Pendred syndrome or Pendred disease is a genetic disorder leading to sensorineural hearing loss and goitre with occasional hypothyroidism. ... Pendred syndrome or Pendred disease is a genetic disorder leading to sensorineural hearing loss and goitre with occasional hypothyroidism. ... Air Express is an airline based in Tanzania. ... Alexander disease is a slowly progressing fatal neurodegenerative disease. ... In medicine, pulmonary hypertension (PH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ... In medicine, pulmonary hypertension (PH) or pulmonary artery hypertension (PAH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ...

B

Disorder Mutation Chromosome
B variant of the Hexosaminidase GM2 gangliosidosis
see Sandhoff disease
BANF
see neurofibromatosis 2
Beare-Stevenson cutis gyrata syndrome
Benign paroxysmal peritonitis
see Mediterranean fever, familial
Benjamin syndrome
beta thalassemia
BH4 Deficiency
see tetrahydrobiopterin deficiency
Bilateral Acoustic Neurofibromatosis
see neurofibromatosis 2
biotinidase deficiency
bladder cancer
Bleeding disorders
see factor V Leiden thrombophilia
Bloch-Sulzberger syndrome
see incontinentia pigmenti
Bone diseases
Bone marrow diseases
see X-linked sideroblastic anemia
Bonnevie-Ullrich syndrome
see Turner syndrome
Bourneville disease
see tuberous sclerosis
Bourneville phakomatosis
see tuberous sclerosis
Brain diseases
see prion disease
breast cancer
Birt-Hogg-Dubé syndrome 17
Brittle bone disease
see osteogenesis imperfecta
Broad Thumb-Hallux syndrome
see Rubinstein-Taybi syndrome
Bronze Diabetes
see hemochromatosis
Bronzed cirrhosis
see hemochromatosis
Bulbospinal muscular atrophy, X-linked
see Kennedy disease
Burger-Grutz syndrome
see lipoprotein lipase deficiency, familial

Sandhoff disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. ... Sandhoff disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. ... Neurofibromatosis Type II (or MISME Syndrome, for Multiple Inherited Schwannomas, Meningiomas, and Ependymomas) is an inherited disease. ... Neurofibromatosis Type II (or MISME Syndrome, for Multiple Inherited Schwannomas, Meningiomas, and Ependymomas) is an inherited disease. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Benjamin Syndrome (or Benjamin anemia) is a type of multiple congenital anomaly/mental retardation (MCA/MR) syndrome. ... Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of phenylalanine. ... Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of a substance called phenylalanine. ... Neurofibromatosis Type II (or MISME Syndrome, for Multiple Inherited Schwannomas, Meningiomas, and Ependymomas) is an inherited disease. ... Neurofibromatosis Type II (or MISME Syndrome, for Multiple Inherited Schwannomas, Meningiomas, and Ependymomas) is an inherited disease. ... Biotin, also known as vitamin H or B7 and C10H16N2O3S (Biotin; Coenzyme R, Biopeiderm), is a water-soluble B-complex vitamin which is composed of an ureido ring fused with a tetrahydrothiophene ring. ... Bladder cancer refers to any of several types of malignant growths of the urinary bladder. ... Haemophilia or hemophilia is the name of any of several hereditary genetic illnesses that impair the bodys ability to control bleeding. ... Factor V Leiden (sometimes Factor VLeiden) is a hypercoagulability disorder in which Factor V, one of the coagulation factors, cannot be deactivated. ... ... Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, and nails. ... Bone diseases affect the development and structure of bone. ... Grays Anatomy illustration of cells in bone marrow. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Turner syndrome encompasses several chromosomal abnormalities, of which monosomy X, is the most common. ... Tuberous sclerosis (meaning hard swellings) is a rare genetic disorder primarily characterized by a triad of seizures, mental retardation, and skin lesions (called facial angiofibroma). ... Tuberous sclerosis is a rare genetic disorder characterized by a triad of signs: seizures, mental retardation, and small benign facial skin tumors (angiofibromas). ... Tuberous sclerosis is a rare genetic disorder characterized by a triad of signs: seizures, mental retardation, and small benign facial skin tumors (angiofibromas). ... Tuberous sclerosis is a rare genetic disorder characterized by a triad of signs: seizures, mental retardation, and small benign facial skin tumors (angiofibromas). ... In animals, the brain, or encephalon (Greek for in the head), is the control center of the central nervous system. ... Transmissible spongiform encephalopathies (TSEs, also known as prion diseases) are a group of progressive conditions that affect the brain and nervous system of humans and animals and are transmitted by prions. ... Breast cancer is cancer of breast tissue. ... Birt-Hogg-Dubé syndrome (BHD) is a rare human genetic disorder. ... Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a group of genetic bone disorders. ... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ... Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. ... Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... Lipoprotein lipase (EC 3. ...

C

Disorder Mutation Chromosome
CADASIL P 3
Canavan disease
Cancer
Cancer Family syndrome
see hereditary nonpolyposis colorectal cancer
Cancer of breast
see breast cancer
Cancer of the bladder
see bladder cancer
Carboxylase Deficiency, Multiple, Late-Onset
see biotinidase deficiency
P 3
Cardiomyopathy
see Noonan syndrome
Cat cry syndrome
see Cri du chat
CAVD
see congenital bilateral absence of vas deferens
Caylor cardiofacial syndrome
see 22q11.2 deletion syndrome
D 22q
CBAVD
see congenital bilateral absence of vas deferens
Celiac Disease
CEP
see congenital erythropoietic porphyria
Ceramide trihexosidase deficiency
see Fabry disease
X
Cerebelloretinal Angiomatosis, familial
see von Hippel-Lindau disease
P 3 (p26-p25)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
see CADASIL
P 3
Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy
see CADASIL
P 3
Cerebral sclerosis
see tuberous sclerosis
9 (q34), 16 (p13.3)
Cerebroatrophic Hyperammonemia
see Rett syndrome
X
Cerebroside Lipidosis syndrome
see Gaucher disease
P 1(q21)
CF
see cystic fibrosis
D (most common); or substitution CFTR (7q31.2)
CH
see congenital hypothyroidism
Charcot disease
see amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease
Chondrodystrophia
see achondroplasia
Chondrodystrophy syndrome
see achondroplasia
Chondrodystrophy with sensorineural deafness
see otospondylomegaepiphyseal dysplasia
Chondrogenesis imperfecta
see achondrogenesis, type II
Choreoathetosis self-mutilation hyperuricemia syndrome
see Lesch-Nyhan syndrome
P X
Classic Galactosemia
see galactosemia
P 9 (p13)
Classical Ehlers-Danlos syndrome
see Ehlers-Danlos syndrome#classical type
Classical Phenylketonuria
see phenylketonuria
Cleft lip and palate
see Stickler syndrome
Cloverleaf skull with thanatophoric dwarfism
see Thanatophoric dysplasia#type 2
CLS
see Coffin-Lowry syndrome
CMT
see Charcot-Marie-Tooth disease
Cockayne syndrome
Coffin-Lowry syndrome
collagenopathy, types II and XI
Colon Cancer, familial Nonpolyposis
see hereditary nonpolyposis colorectal cancer
Colon cancer, familial
see familial adenomatous polyposis
Colorectal Cancer
Complete HPRT deficiency
see Lesch-Nyhan syndrome
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
see Lesch-Nyhan syndrome
Compression neuropathy
see hereditary neuropathy with liability to pressure palsies
Congenital adrenal hyperplasia
see 21-hydroxylase deficiency
congenital bilateral absence of vas deferens
Congenital erythropoietic porphyria
Congenital heart disease
Congenital hypomyelination
see Charcot-Marie-Tooth disease#Type 1
see Charcot-Marie-Tooth disease#Type 4
Congenital hypothyroidism
Congenital methemoglobinemia
Congenital osteosclerosis
see achondroplasia
Congenital sideroblastic anaemia
see X-linked sideroblastic anemia
X
Connective tissue disease
Conotruncal anomaly face syndrome
see 22q11.2 deletion syndrome
D 22q
Cooley's Anemia
see beta thalassemia
Copper storage disease
see Wilson disease
13 (q14.3)
Copper transport disease
see Menkes syndrome
Coproporphyria, hereditary
see hereditary coproporphyria
Coproporphyrinogen oxidase deficiency
see hereditary coproporphyria
Cowden syndrome
CPO deficiency
see hereditary coproporphyria
CPRO deficiency
see hereditary coproporphyria
CPX deficiency
see hereditary coproporphyria
Craniofacial dysarthrosis
see Crouzon syndrome
Craniofacial Dysostosis
see Crouzon syndrome
Cretinism
see congenital hypothyroidism
Creutzfeldt-Jakob disease
see prion disease
Cri du chat D 5p
Crohn's disease, fibrostenosing P 16q12
Crouzon syndrome FGFR2 (10q25.3-q26)
Crouzon syndrome with acanthosis nigricans
see Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome
CS
see Cockayne syndrome
see Cowden syndrome
Curschmann-Batten-Steinert syndrome
see myotonic dystrophy
cutis gyrata syndrome of Beare-Stevenson
see Beare-Stevenson cutis gyrata syndrome

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19 (Joutel et al, 1996). ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Cancer is a class of diseases or disorders characterized by uncontrolled division of cells and the ability of these to spread, either by direct growth into adjacent tissue through invasion, or by implantation into distant sites by metastasis (where cancer cells are transported through the bloodstream or lymphatic system). ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Breast cancer is cancer of breast tissue. ... Breast cancer is cancer of breast tissue. ... Bladder cancer refers to any of several types of malignant growths of the urinary bladder. ... Bladder cancer refers to any of several types of malignant growths of the urinary bladder. ... Biotinidase deficiency is an inherited disorder in which the body is not able to process the vitamin biotin properly. ... Biotin, also known as vitamin H or B7 and C10H16N2O3S (Biotin; Coenzyme R, Biopeiderm), is a water-soluble B-complex vitamin which is composed of an ureido ring fused with a tetrahydrothiophene ring. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... This article does not cite any references or sources. ... This article belongs in one or more categories. ... This article belongs in one or more categories. ... 22q11. ... 22q11. ... This article belongs in one or more categories. ... This article belongs in one or more categories. ... Coeliac disease (also termed non-tropical sprue, celiac disease and gluten intolerance) is an autoimmune disease characterised by chronic inflammation of the proximal portion of the small intestine caused by exposure to certain dietary gluten proteins. ... In the military science of ballistics, Circular Error Probability or circular error probable (CEP) is a simple measure of a weapon systems precision. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Fabry disease (also known as Anderson-Fabry disease,Angiokeratoma corporis diffusum, Ceramide trihexosidosis, and Sweeley-Klionsky disease) is an X-linked recessive inherited lysosomal storage disease. ... Fabrys disease (also known as Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum and Hereditary Dystopic Lipidosis) is a lysosomal storage disease resulting from an X-linked mutation. ... Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ... Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ... CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19 (Joutel et al, 1996). ... CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19 (Joutel et al, 1996). ... CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19 (Joutel et al, 1996). ... CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19 (Joutel et al, 1996). ... Tuberous sclerosis is a rare genetic disorder characterized by a triad of signs: seizures, mental retardation, and small benign facial skin tumors (angiofibromas). ... To meet Wikipedias quality standards, this article or section may require cleanup. ... A woman with Retts Syndrome Rett syndrome is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. Many [1] argue that this is a mis-classification just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... // Cf or CF may stand for: cf. ... CH can mean: Cargo helicopter (U.S. military helicopter alpha-numeric prefix) Companion of Honour, a member of the Order of the Companions of Honour, which is a British and Commonwealth Order. ... Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs disease) is a progressive, invariably fatal motor neurone disease. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. ... Circus Busch, 1906 Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. ... Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. ... Circus Busch, 1906 Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Achondrogenesis, type 2 is a severe, inherited disorder of bone growth. ... Achondrogenesis, type 2 is a severe, inherited disorder of bone growth. ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ... Phenylketonuria (PKU; ) is a human genetic disorder, in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. ... PhenylKetonUria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). ... Look up cleft lip and palate in Wiktionary, the free dictionary. ... Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. ... Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. ... Coffin-Lowry syndrome is a condition associated with mental retardation and delayed development, characteristic facial features, and skeletal abnormalities. ... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. ... Coffin-Lowry syndrome is a condition associated with mental retardation and delayed development, characteristic facial features, and skeletal abnormalities. ... The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the bodys joints and organs. ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... Colorectal cancer, also called colon cancer or bowel cancer, includes cancerous growths in the colon, rectum and appendix. ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ... Congenital absence of the vas deferens (CAVD) is a condition in which the two vas deferens, male reproductive organs, fail to form properly prior to birth. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Cross-section of a healthy heart. ... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. ... // Methemoglobinemia, also known as met-Hb, is a disorder characterized by the presence of a higher than normal level of methemoglobin in the blood. ... Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. ... Circus Busch, 1906 Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. ... For the poem by Robert Browning see Porphyrias Lover. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... A connective tissue disease is any disease that has the connective tissues of the body as a primary target of pathology. ... 22q11. ... 22q11. ... Thalassemia (American English) (or thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Wilsons disease or hepatolenticular degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000 in most parts of the world and a male preponderance. ... Wilsons disease is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000. ... Menkes disease (also called the kinky hair disease or Menkes kinky hair syndrome) is a disorder that affects copper levels in the body. ... Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ... Hereditary coproporphyria (HCP) is a form of hepatic porphyria associated with a deficiency of the enzyme coproporphyrinogen III oxidase. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Cowden syndrome is an inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer. ... Hereditary coproporphyria (HCP) is a form of hepatic porphyria associated with a deficiency of the enzyme coproporphyrinogen III oxidase. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Hereditary coproporphyria (HCP) is a form of hepatic porphyria associated with a deficiency of the enzyme coproporphyrinogen III oxidase. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Hereditary coproporphyria (HCP) is a form of hepatic porphyria associated with a deficiency of the enzyme coproporphyrinogen III oxidase. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Crouzon Syndrome is a type of genetic disorder known as a branchial arch syndrome. ... Crouzon Syndrome is a genetic disorder known as a branchial arch syndrome. ... Crouzon Syndrome is a type of genetic disorder known as a branchial arch syndrome. ... Crouzon Syndrome is a genetic disorder known as a branchial arch syndrome. ... Cretinism (most likely from the Latin Christiānum, Christian) is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones (hypothyroidism). ... Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. ... Creutzfeldt-Jakob disease (CJD) is a very rare and incurable degenerative neurological disorder (brain disease) that is ultimately fatal. ... Transmissible spongiform encephalopathies (TSEs, also known as prion diseases) are a group of progressive conditions that affect the brain and nervous system of humans and animals and are transmitted by prions. ... This article does not cite any references or sources. ... Crohns disease (also known as regional enteritis) is a chronic, episodic, inflammatory condition of the gastrointestinal tract characterized by transmural inflammation (affecting the entire wall of the involved bowel) and skip lesions (areas of inflammation with areas of normal lining in between). ... Crouzon Syndrome is a genetic disorder known as a branchial arch syndrome. ... Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. ... Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. ... Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. ... Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. ... Cowden syndrome is an inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer. ... The introduction to this article is too long. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ...

D

Disorder Mutation Chromosome
D-glycerate dehydrogenase deficiency
see hyperoxaluria, primary
Dappled metaphysis syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type
DAT - Dementia Alzheimer's type
see Alzheimer disease
DBMD
see muscular dystrophy, Duchenne and Becker types
Deafness with goiter
see Pendred syndrome
Deafness-retinitis pigmentosa syndrome
see Usher syndrome
Deficiency disease, Phenylalanine Hydroxylase
see phenylketonuria
P 12q
Degenerative nerve diseases
de Grouchy syndrome 1
see 18p deletion syndrome
D 18p
Dejerine-Sottas syndrome
see Charcot-Marie-Tooth disease
Delta-aminolevulinate dehydratase deficiency porphyria
see ALA dehydratase deficiency
Dementia
see CADASIL
demyelinogenic leukodystrophy
see Alexander disease
Dermatosparactic type of Ehlers-Danlos syndrome
see Ehlers-Danlos syndrome#dermatosparaxis type
Dermatosparaxis
see Ehlers-Danlos syndrome#dermatosparaxis type
Developmental Disabilities
dHMN
see Amyotrophic lateral sclerosis#type 4
DHMN-V
see distal spinal muscular atrophy, type V
DHTR deficiency
see androgen insensitivity syndrome
X
Diffuse Globoid Body Sclerosis
see Krabbe disease
DiGeorge syndrome D 22q
Dihydrotestosterone receptor deficiency
see androgen insensitivity syndrome
X
distal spinal muscular atrophy, type V
DM1
see Myotonic dystrophy#type 1
T 19
DM2
see Myotonic dystrophy#type 2
T 3
Down syndrome
DSMAV
see distal spinal muscular atrophy, type V
DSN
see Charcot-Marie-Tooth disease#type 4
DSS
see Charcot-Marie-Tooth disease, type 4
Duchenne/Becker muscular dystrophy
see muscular dystrophy, Duchenne and Becker types
Dwarf, achondroplastic
see achondroplasia
3
Dwarf, thanatophoric
see thanatophoric dysplasia
Dwarfism
Dwarfism-retinal atrophy-deafness syndrome
see Cockayne syndrome
dysmyelinogenic leukodystrophy
see Alexander disease
Dystrophia myotonica
see myotonic dystrophy
T 19
dystrophia retinae pigmentosa-dysostosis syndrome
see Usher syndrome

Oxalic acid is the chemical compound with the formula H2C2O4. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Alzheimer redirects here. ... Pendred syndrome or Pendred disease is a genetic disorder leading to sensorineural hearing loss and goitre with occasional hypothyroidism. ... Pendred syndrome or Pendred disease is a genetic disorder leading to sensorineural hearing loss and goitre with occasional hypothyroidism. ... Usher syndrome (sometimes referred to as Ushers syndrome) is a genetic disease causing deaf-blindness. ... Usher syndrome is a genetic disease causing deaf-blindness. ... Phenylketonuria (PKU; ) is a human genetic disorder, in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. ... PhenylKetonUria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). ... Charcot-Marie-Tooth disease, also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... ALA (D-Aminolevulinic acid} dehydratase deficiency is a type of hepatic porphyria. ... For other uses, see Dementia (disambiguation). ... CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19 (Joutel et al, 1996). ... Alexander disease is a slowly progressing fatal neurodegenerative disease. ... Alexander disease is a slowly progressing fatal neurodegenerative disease. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ... Mental retardation (abbreviated as MR), is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal intellectual capacity as an adult. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... DiGeorge syndrome is also called Microdeletion 22q11 syndrome (del 22q11. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... DSN may stand for: Deep Space Network Defense Switched Network The International Conference on Dependable Systems and Networks Database Source Name Star Trek: Deep Space Nine Delivery Status Notification, especially E-mail bounces This page extends a three-character combination which might be any or all of: an abbreviation, an... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Charcot-Marie-Tooth disease, known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in... Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. ... Circus Busch, 1906 Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. ... Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. ... Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. ... see dwarf, and for insular dwarfism and other meanings see Dwarf (disambiguation). ... Cockayne syndrome (or Weber-Cockayne syndrome, or Neill-Dingwall Syndrome) is a rare, autosomal recessive disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. ... Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. ... Alexander disease is a slowly progressing fatal neurodegenerative disease. ... Alexander disease is a slowly progressing fatal neurodegenerative disease. ... The introduction to this article is too long. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Usher syndrome (sometimes referred to as Ushers syndrome) is a genetic disease causing deaf-blindness. ... Usher syndrome is a genetic disease causing deaf-blindness. ...

E

Disorder Mutation Chromosome
Early-Onset familial alzheimer disease (EOFAD)
see Alzheimer disease#type 1
see Alzheimer disease#type 3
see Alzheimer disease#type 4
EDS
see Ehlers-Danlos syndrome
Ehlers-Danlos syndrome
Ekman-Lobstein disease
see osteogenesis imperfecta
Entrapment neuropathy
see hereditary neuropathy with liability to pressure palsies
Epiloia
see tuberous sclerosis
EPP
see erythropoietic protoporphyria
Erythroblastic anemia
see beta thalassemia
Erythrohepatic protoporphyria
see erythropoietic protoporphyria
Erythroid 5-aminolevulinate synthetase deficiency
see X-linked sideroblastic anemia
Erythropoietic porphyria
see congenital erythropoietic porphyria
erythropoietic protoporphyria
Erythropoietic uroporphyria
see congenital erythropoietic porphyria
Eye cancer
see retinoblastoma FA - Friedreich ataxia
see Friedreich ataxia

Alzheimers disease (AD) or senile dementia of Alzheimers type is a neurodegenerative disease which results in a loss of mental functions due to the deterioration of brain tissue. ... Alzheimers disease (AD) or senile dementia of Alzheimers type is a neurodegenerative disease which results in a loss of mental functions due to the deterioration of brain tissue. ... Alzheimers disease (AD) or senile dementia of Alzheimers type is a neurodegenerative disease which results in a loss of mental functions due to the deterioration of brain tissue. ... EDS may refer to: Ed. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ... Osteogenesis imperfecta is a group of genetic bone disorders. ... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ... Tuberous sclerosis is a rare genetic disorder characterized by a triad of signs: seizures, mental retardation, and small benign facial skin tumors (angiofibromas). ... EPP may refer to: Enhanced Parallel Port (computer peripheral communication standard) The European Peoples Party (political party) Extensible Provisioning Protocol (network protocol) Extruded PolyPropylene foam. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Erythropoietic protoporphyria (EPP) is a form of porphyria which is due to a deficiency in ferrochelatase. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired by disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Erythropoietic porphyria can refer to: X-linked sideroblastic anemia (XLSA) congenital erythropoietic porphyria (CEP) erythropoietic protoporphyria (EPP) porphyria hepatic porphyria MeSH Erythropoietic+Porphyria Categories: | ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired by disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Cancers can affect the eye. ... Friedreichs ataxia is rare, although it is one of the most common forms of autosomal recessive ataxia. ...

F

Disorder Mutation Chromosome
Fabry disease P Xq22.1
Facial injuries and disorders
factor V Leiden thrombophilia
FALS
see amyotrophic lateral sclerosis
familial acoustic neuroma
see neurofibromatosis type II
familial adenomatous polyposis
familial Alzheimer disease (FAD)
see Alzheimer disease
familial amyotrophic lateral sclerosis
see amyotrophic lateral sclerosis
familial dysautonomia
familial fat-induced hypertriglyceridemia
see lipoprotein lipase deficiency, familial
familial hemochromatosis
see hemochromatosis
familial LPL deficiency
see lipoprotein lipase deficiency, familial
familial nonpolyposis colon cancer
see hereditary nonpolyposis colorectal cancer
familial paroxysmal polyserositis
see Mediterranean fever, familial
familial PCT
see porphyria cutanea tarda
familial pressure sensitive neuropathy
see hereditary neuropathy with liability to pressure palsies
familial primary pulmonary hypertension (FPPH)
see primary pulmonary hypertension
Familial Turner syndrome
see Noonan syndrome
familial vascular leukoencephalopathy
see CADASIL
FAP
see familial adenomatous polyposis
FD
see familial dysautonomia
Female pseudo-Turner syndrome
see Noonan syndrome
Ferrochelatase deficiency
see erythropoietic protoporphyria
ferroportin disease
see Haemochromatosis#type 4
Fever
see Mediterranean fever, familial
FGFR3-associated coronal synostosis
see Muenke syndrome
Fibrinoid degeneration of astrocytes
see Alexander disease
Fibrocystic disease of the pancreas
see cystic fibrosis
FMF
see Mediterranean fever, familial
Folling disease
see phenylketonuria
fra(X) syndrome
see fragile X syndrome
Xq27.3
fragile X syndrome Xq27.3
Fragilitas ossium
see osteogenesis imperfecta
FRAXA syndrome
see fragile X syndrome
Xq27.3
FRDA
see Friedreich ataxia
Friedreich ataxia
FXS
see fragile X syndrome
Xq27.3

Fabrys disease (also known as Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum and Hereditary Dystopic Lipidosis) is a lysosomal storage disease resulting from an X-linked mutation. ... Factor V Leiden (sometimes Factor VLeiden) is a hypercoagulability disorder in which Factor V, one of the coagulation factors, cannot be deactivated. ... The fals (plural fulus) was a copper coin produced by the Umayyad and Abbasid caliphates beginning in the late 7th century. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Neurofibromatosis Type II (or MISME Syndrome, for Multiple Inherited Schwannomas, Meningiomas, and Ependymomas) is an inherited disease. ... Neurofibromatosis Type II (or MISME Syndrome, for Multiple Inherited Schwannomas, Meningiomas, and Ependymomas) is an inherited disease. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal neurodegenerative disease caused by the degeneration of motor neurons. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Familial dysautonomia, or FD, is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure... Lipoprotein lipase (EC 3. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues,[1] eventually causing organ dysfunction. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Lipoprotein lipase (EC 3. ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Porphyria cutanea tarda is the most common subtype of porphyria. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... In medicine, pulmonary hypertension (PH) or pulmonary artery hypertension (PAH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19 (Joutel et al, 1996). ... Look up FAP in Wiktionary, the free dictionary. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... FD can mean: Flying Dutchman (dinghy) The IATA code for Thai AirAsia Floppy disk Familial dysautonomia A third generation Mazda RX-7 Fire department, as in FDNY Final Destination - a 2000 horror movie. ... Familial dysautonomia, or FD, is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... Erythropoietic protoporphyria (EPP) is a relatively mild form of porphyria which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... This article needs additional references or sources for verification. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Muenke Syndrome, also known as FGFR3-related craniosynostosis,[1] is a condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. ... Alexander disease is a slowly progressing fatal neurodegenerative disease. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Phenylketonuria (PKU; ) is a human genetic disorder in which the body does not contain the enzyme phenylalanine hydroxylase, necessary to metabolize phenylalanine to tyrosine, and converts phenylalanine instead to phenylpyruvic acid. ... PhenylKetonUria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). ... Fragile X Syndrome is the most common inherited cause of mental impairment, and the most common known cause of autism. ... Fragile X syndrome, also known as the MikyD syndrome, is a syndrome of X-linked mental retardation. ... Fragile X syndrome, also known as the MikyD syndrome, is a syndrome of X-linked mental retardation. ... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ... Fragile X Syndrome is the most common inherited cause of mental impairment, and the most common known cause of autism. ... Fragile X syndrome, also known as the MikyD syndrome, is a syndrome of X-linked mental retardation. ... Friedreichs ataxia is rare, although it is one of the most common forms of autosomal recessive ataxia. ... Friedreichs ataxia is a rare autosomal recessive disorder caused by a mutation in Gene X25 that codes for frataxin, located on chromosome 9. ... FXS can stand for: foreign exchange station fragile X syndrome This is a disambiguation page — a list of articles associated with the same title. ... Fragile X syndrome, also known as the MikyD syndrome, is a syndrome of X-linked mental retardation. ...

G

Disorder Mutation Chromosome
G6PD deficiency
Galactokinase deficiency disease
see galactosemia
Galactose-1-phosphate uridyl-transferase deficiency disease
see galactosemia
galactosemia
Galactosylceramidase deficiency disease
see Krabbe disease
Galactosylceramide lipidosis
see Krabbe disease
galactosylcerebrosidase deficiency
see Krabbe disease
galactosylsphingosine lipidosis
see Krabbe disease
GALC deficiency
see Krabbe disease
GALT deficiency
see galactosemia
Gaucher disease
Gaucher-like disease
see pseudo-Gaucher disease
GBA deficiency
see Gaucher disease type 1
GD
see Gaucher's disease
Genetic brain disorders
genetic emphysema
see alpha-1 antitrypsin deficiency
genetic hemochromatosis
see hemochromatosis
Giant cell hepatitis, neonatal
see Neonatal hemochromatosis
GLA deficiency
see Fabry disease
Glioblastoma, retinal
see retinoblastoma
Glioma, retinal
see retinoblastoma
globoid cell leukodystrophy (GCL, GLD)
see Krabbe disease
globoid cell leukoencephalopathy
see Krabbe disease
Glucocerebrosidase deficiency
see Gaucher disease
Glucocerebrosidosis
see Gaucher disease
Glucosyl cerebroside lipidosis
see Gaucher disease
Glucosylceramidase deficiency
see Gaucher disease
Glucosylceramide beta-glucosidase deficiency
see Gaucher disease
Glucosylceramide lipidosis
see Gaucher disease
Glyceric aciduria
see hyperoxaluria, primary
Glycine encephalopathy
see Nonketotic hyperglycinemia
Glycolic aciduria
see hyperoxaluria, primary
GM2 gangliosidosis, type 1
see Tay-Sachs disease
Goiter-deafness syndrome
see Pendred syndrome
Graefe-Usher syndrome
see Usher syndrome
Gronblad-Strandberg syndrome
see pseudoxanthoma elasticum
Guenther porphyria
see congenital erythropoietic porphyria
Gunther disease
see congenital erythropoietic porphyria
Disorder Mutation Chromosome
Haemochromatosis
see hemochromatosis
Hallgren syndrome
see Usher syndrome
Hb S disease
see sickle cell anemia
HCH
see hypochondroplasia
HCP
see hereditary coproporphyria
Head and brain malformations
Hearing disorders and deafness
Hearing problems in children
HEF2A
see hemochromatosis#type 2
HEF2B
see hemochromatosis#type 2
Hematoporphyria
see porphyria
Heme synthetase deficiency
see erythropoietic protoporphyria
Hemochromatoses
see hemochromatosis
hemochromatosis
hemoglobin M disease
see methemoglobinemia#beta-globin type
Hemoglobin S disease
see sickle cell anemia
hemophilia
HEP
see hepatoerythropoietic porphyria
hepatic AGT deficiency
see hyperoxaluria, primary
hepatoerythropoietic porphyria
Hepatolenticular degeneration syndrome
see Wilson disease
Hereditary arthro-ophthalmopathy
see Stickler syndrome
Hereditary coproporphyria
Hereditary dystopic lipidosis
see Fabry disease
Hereditary hemochromatosis (HHC)
see hemochromatosis
Hereditary iron-loading anemia
see X-linked sideroblastic anemia
Hereditary motor and sensory neuropathy
see Charcot-Marie-Tooth disease
Hereditary motor neuronopathy
see spinal muscular atrophy
Hereditary motor neuronopathy, type V
see distal spinal muscular atrophy, type V
Hereditary Multiple Exostoses
Hereditary nonpolyposis colorectal cancer DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes usually chromosomes 2 and 3
Hereditary periodic fever syndrome
see Mediterranean fever, familial
Hereditary Polyposis Coli
see familial adenomatous polyposis
Hereditary pulmonary emphysema
see alpha-1 antitrypsin deficiency
Hereditary resistance to activated protein C
see factor V Leiden thrombophilia
Hereditary sensory and autonomic neuropathy type III
see familial dysautonomia
Hereditary spastic paraplegia
see infantile-onset ascending hereditary spastic paralysis
Hereditary spinal ataxia
see Friedreich ataxia
Hereditary spinal sclerosis
see Friedreich ataxia
Herrick's anemia
see sickle cell anemia
Heterozygous OSMED
see Weissenbacher-Zweymüller syndrome
Heterozygous otospondylomegaepiphyseal dysplasia
see Weissenbacher-Zweymüller syndrome
HexA deficiency
see Tay-Sachs disease
Hexosaminidase A deficiency
see Tay-Sachs disease
Hexosaminidase alpha-subunit deficiency (variant B)
see Tay-Sachs disease
HFE-associated hemochromatosis
see hemochromatosis
HGPS
see Hutchinson-Gilford progeria syndrome
Hippel-Lindau disease
see von Hippel-Lindau disease
HLAH
see hemochromatosis
HMN V
see distal spinal muscular atrophy, type V
HMSN
see Charcot-Marie-Tooth disease
HNPCC
see hereditary nonpolyposis colorectal cancer
HNPP
see hereditary neuropathy with liability to pressure palsies
homocystinuria
Homogentisic acid oxidase deficiency
see alkaptonuria
Homogentisic acidura
see alkaptonuria
Homozygous porphyria cutanea tarda
see hepatoerythropoietic porphyria
HP1
see hyperoxaluria, primary
HP2
see hyperoxaluria, primary
HPA
see hyperphenylalaninemia
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency
see Lesch-Nyhan syndrome
HSAN type III
see familial dysautonomia
HSAN3
see familial dysautonomia
HSN-III
see familial dysautonomia
Human dermatosparaxis
see Ehlers-Danlos syndrome#dermatosparaxis type
Huntington disease T gene IT-15 on chromosome 4
Huntington's disease
see Huntington disease
Hutchinson-Gilford progeria syndrome
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
see 21-hydroxylase deficiency
Hyperchylomicronemia, familial
see lipoprotein lipase deficiency, familial
hyperglycinemia with ketoacidosis and leukopenia
see propionic acidemia
Hyperlipoproteinemia type I
see lipoprotein lipase deficiency, familial
hyperoxaluria, primary
hyperphenylalaninaemia
see hyperphenylalaninemia
hyperphenylalaninemia
Hypochondrodysplasia
see hypochondroplasia
hypochondrogenesis
hypochondroplasia
Hypochromic anemia
see X-linked sideroblastic anemia
Hypocupremia, congenital
see Menkes syndrome
hypoxanthine phosphoribosyltransferse (HPRT) deficiency
see Lesch-Nyhan syndrome

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an X-linked recessive hereditary disease featuring nonimmune hemolytic anemia in response to a number of causes. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Neonatal Hemochromatosis is a rare and severe liver disease. ... Fabrys disease (also known as Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum and Hereditary Dystopic Lipidosis) is a lysosomal storage disease resulting from an X-linked mutation. ... // Retinoblastoma is a cancer of the retina. ... // Retinoblastoma is a cancer of the retina. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... Oxalic acid is the chemical compound with the formula H2C2O4. ... Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of the amino acid glycine. ... Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of the amino acid glycine. ... Oxalic acid is the chemical compound with the formula H2C2O4. ... Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in all forms. ... Pendred syndrome or Pendred disease is a genetic disorder leading to sensorineural hearing loss and goitre with occasional hypothyroidism. ... Usher syndrome is a genetic disease causing deaf-blindness. ... Category: ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Usher syndrome is a genetic disease causing deaf-blindness. ... Sickle-shaped red blood cells Sickle cell anemia (American English), sickle cell anaemia (British English) or sickle cell disease is a genetic disease in which red blood cells may change shape under certain circumstances. ... HCH could refer to: Beta-Benzenehexachloride; product name HCH in Europe. ... Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body. ... HCP stands for hexagonal close-packed crystal structure See also FCC BCC ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... It has been suggested that Acute intermittent porphyria be merged into this article or section. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... // Methemoglobinemia, also known as met-Hb, is a disorder characterized by the presence of a higher than normal level of methemoglobin in the blood. ... Sickle-shaped red blood cells Sickle cell anemia (American English), sickle cell anaemia (British English) or sickle cell disease is a genetic disease in which red blood cells may change shape under certain circumstances. ... Haemophilia or hemophilia is the name of any of several hereditary genetic illnesses that impair the bodys ability to control bleeding. ... HEP can be: head end power a method for providing electricity to train carriages high-energy physics high explosive, plastic anti-tank ammunition, also called high explosive squash head (HESH) higher education provider a classification from the Australian Government Department of Education, Science and Training [1] a housing equity partnership... Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in the gene which codes Uroporphyrinogen III decarboxylase (UROD). ... Oxalic acid is the chemical compound with the formula H2C2O4. ... Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in the gene which codes Uroporphyrinogen III decarboxylase (UROD). ... Wilsons disease is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000. ... Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Fabrys disease (also known as Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum and Hereditary Dystopic Lipidosis) is a lysosomal storage disease resulting from an X-linked mutation. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem. ... Hereditary Multiple Exostoses (HME) is a medical condition whereby multiple exostoses (bony spurs or lumps, also known as osteochondromas) develop on the bones of a child. ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ... Factor V Leiden (sometimes Factor VLeiden) is a hypercoagulability disorder in which Factor V, one of the coagulation factors, cannot be deactivated. ... Familial dysautonomia, or FD, is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure... Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs. ... Friedreichs ataxia is rare, although it is one of the most common forms of autosomal recessive ataxia. ... Friedreichs ataxia is rare, although it is one of the most common forms of autosomal recessive ataxia. ... Sickle-shaped red blood cells Sickle cell anemia (American English), sickle cell anaemia (British English) or sickle cell disease is a genetic disease in which red blood cells may change shape under certain circumstances. ... Weissenbacher-Zweymuller syndrome is a genetic disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21. ... Weissenbacher-Zweymuller syndrome is a genetic disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21. ... Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in all forms. ... Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in all forms. ... Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in all forms. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... The term Progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is also used more generally to describe any of the so-called accelerated aging diseases. The word progeria is derived from the Greek for prematurely old. Because the accelerated aging diseases display different aspects of aging, but... Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ... HLAH (Head Like a Hole) were an influential rock band, from Wellington, New Zealand. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Hereditary nonpolypsis colorectal cancer (HNPCC) is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ... Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ... Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ... Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in the gene which codes Uroporphyrinogen III decarboxylase (UROD). ... Oxalic acid is the chemical compound with the formula H2C2O4. ... Oxalic acid is the chemical compound with the formula H2C2O4. ... HPA means Physiology Hypothalamic-Pituitary-Adrenal axis: The hypothalamus, pituitary and adrenal glands work together to regulate hormone levels and maintain homeostasis. ... Phenylketonuria (PKU) is a human genetic disorder, in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... Familial dysautonomia, or FD, is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure... Familial dysautonomia, or FD, is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure... Familial dysautonomia, or FD, is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ... The term Progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is also used more generally to describe any of the so-called accelerated aging diseases. The word progeria is derived from the Greek for prematurely old. Because the accelerated aging diseases display different aspects of aging, but... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ... Lipoprotein lipase (EC 3. ... Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. ... Hyperlipoproteinemia is the presence of elevated levels of lipoprotein in the blood. ... Lipoprotein lipase (EC 3. ... Oxalic acid is the chemical compound with the formula H2C2O4. ... Phenylketonuria (PKU) is a human genetic disorder, in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. ... Phenylketonuria (PKU) is a human genetic disorder, in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. ... Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body. ... Hypochondrogenesis is a severe, inherited disorder of bone growth. ... Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body. ... A form of anemia characterized by a disproportionate reduction of red cell hemoglobin and an increased area of central pallor in the red cells. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1...

I

Disorder Mutation Chromosome
IAHSP
see infantile-onset ascending hereditary spastic paralysis
idiopathic hemochromatosis
see hemochromatosis, type 3
Idiopathic neonatal hemochromatosis
see hemochromatosis, neonatal
Idiopathic pulmonary hypertension
see primary pulmonary hypertension
Immune system disorders
see X-linked severe combined immunodeficiency
Incontinentia Pigmenti P Xq28
Infantile cerebral Gaucher's disease
see Gaucher disease type 2
Infantile Gaucher disease
see Gaucher disease type 2
infantile-onset ascending hereditary spastic paralysis
Infertility
inherited emphysema
see alpha-1 antitrypsin deficiency
Inherited human transmissible spongiform encephalopathies
see prion disease
inherited tendency to pressure palsies
see hereditary neuropathy with liability to pressure palsies
Insley-Astley syndrome
see otospondylomegaepiphyseal dysplasia
Intermittent acute porphyria syndrome
see acute intermittent porphyria
Intestinal polyposis-cutaneous pigmentation syndrome
see Peutz-Jeghers syndrome
IP
see incontinentia pigmenti
Iron storage disorder
see hemochromatosis
Isodicentric 15
see idic15
Inv dup 15q11-14
Isolated deafness
see nonsyndromic deafness

In medicine, pulmonary hypertension (PH) or pulmonary artery hypertension (PAH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ... It has been suggested that this article or section be merged into Severe combined immunodeficiency. ... Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, and nails. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Infertility primarily refers to the biological inability of a man or a woman to contribute to conception. ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ... Transmissible spongiform encephalopathies (TSEs, also known as prion diseases) are a group of progressive conditions that affect the brain and nervous system of humans and animals and are transmitted by prions. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ... Peutz-Jeghers is an autosomal dominant genetic disease. ... Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, and nails. ... Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, and nails. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... To meet Wikipedias quality standards, this article may require cleanup. ... To meet Wikipedias quality standards, this article may require cleanup. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ...

J

Disorder Mutation Chromosome
Jackson-Weiss syndrome
JH
see Haemochromatosis#type 2
Joubert syndrome
JPLS
see Juvenile Primary Lateral Sclerosis
ALS2
juvenile amyotrophic lateral sclerosis
see Amyotrophic lateral sclerosis#type 2
Juvenile gout, choreoathetosis, mental retardation syndrome
see Lesch-Nyhan syndrome
juvenile hyperuricemia syndrome
see Lesch-Nyhan syndrome
JWS
see Jackson-Weiss syndrome

Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. ... Japan Highway Public Corporation (日本道路公団; nihon douro koudann) is a public company established to construct and manage highway networks in Japan, founded in 1956. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Joubert syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination. ... Juvenile primary lateral sclerosis (JPLS) ,also known as as primary lateral sclerois (PLSJ), is a rare genetic disorder, with a small number of reported cases, characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. ... Juvenile primary lateral sclerosis (JPLS) ,also known as as primary lateral sclerois (PLSJ), is a rare genetic disorder, with a small number of reported cases, characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. ...

K

Disorder Mutation Chromosome
KD
see X-linked spinal-bulbar muscle atrophy
Kennedy disease
see X-linked spinal-bulbar muscle atrophy
Kennedy spinal and bulbar muscular atrophy
see X-linked spinal-bulbar muscle atrophy
Kerasin histiocytosis
see Gaucher disease
Kerasin lipoidosis
see Gaucher disease
Kerasin thesaurismosis
see Gaucher disease
ketotic glycinemia
see propionic acidemia
ketotic hyperglycinemia
see propionic acidemia
Kidney diseases
see hyperoxaluria, primary
Kinky hair syndrome
see Menkes syndrome
Klinefelter syndrome
Klinefelter's syndrome
see Klinefelter syndrome
Kniest dysplasia
Krabbe disease

Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. ... Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. ... Human kidneys viewed from behind with spine removed The kidneys are bean-shaped excretory organs in vertebrates. ... Oxalic acid is the chemical compound with the formula H2C2O4. ... Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ... XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... Not to be confused with XYY syndrome or XXX syndrome. ... XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... Kniest dysplasia is an uncommon inherited disorder of bone growth. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ...

L

Disorder Mutation Chromosome
Lacunar dementia
see CADASIL
Langer-Saldino achondrogenesis
see achondrogenesis, type II
Langer-Saldino dysplasia
see achondrogenesis, type II
Late-onset Alzheimer disease
see Alzheimer disease#type 2
Late-onset familial Alzheimer disease (AD2)
see Alzheimer disease#type 2
late-onset Krabbe disease (LOKD)
see Krabbe disease
Learning Disorders
Lentiginosis, perioral
see Peutz-Jeghers syndrome
Lesch-Nyhan syndrome
Leukodystrophies
leukodystrophy with Rosenthal fibers
see Alexander disease
Leukodystrophy, spongiform
see Canavan disease
LFS
see Li-Fraumeni syndrome
Li-Fraumeni syndrome
Lipase D deficiency
see lipoprotein lipase deficiency, familial
LIPD deficiency
see lipoprotein lipase deficiency, familial
Lipidosis, cerebroside
see Gaucher disease
Lipidosis, ganglioside, infantile
see Tay-Sachs disease
Lipoid histiocytosis (kerasin type)
see Gaucher disease
lipoprotein lipase deficiency, familial
Liver diseases
see galactosemia
Lou Gehrig disease
see amyotrophic lateral sclerosis
Louis-Bar syndrome
see ataxia-telangiectasia
Lynch syndrome
see hereditary nonpolyposis colorectal cancer
Lysyl-hydroxylase deficiency
see Ehlers-Danlos syndrome#kyphoscoliosis type

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19 (Joutel et al, 1996). ... Achondrogenesis, type 2 is a severe, inherited disorder of bone growth. ... Achondrogenesis, type 2 is a severe, inherited disorder of bone growth. ... Achondrogenesis, type 2 is a severe, inherited disorder of bone growth. ... Achondrogenesis, type 2 is a severe, inherited disorder of bone growth. ... Alzheimers disease (AD) or senile dementia of Alzheimers type is a neurodegenerative disease which results in a loss of mental functions due to the deterioration of brain tissue. ... Alzheimers disease (AD) or senile dementia of Alzheimers type is a neurodegenerative disease which results in a loss of mental functions due to the deterioration of brain tissue. ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... In the United States and Canada, the term learning disability (LD) is used to refer to a range of neurological conditions that affect one or more of the ways that a person takes in, stores, or uses information. ... Peutz-Jeghers is an autosomal dominant genetic disease. ... -1... Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. ... Alexander disease is a slowly progressing fatal neurodegenerative disease. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. ... Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. ... Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. ... Lipoprotein lipase (EC 3. ... Lipoprotein lipase (EC 3. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in all forms. ... In medicine (hematology), Gauchers disease (or Gaucher disease) is a genetic disorder that affects white blood cells, the spleen, bones and brain. ... Lipoprotein lipase (EC 3. ... Liver of a sheep: (1) right lobe, (2) left lobe, (3) caudate lobe, (4) quadrate lobe, (5) hepatic artery and portal vein, (6) hepatic lymph nodes, (7) gall bladder. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Motor neurone disease (MND) is a term used to cover a number of illnesses of the motor neurone: amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), progressive bulbar palsy (PBP) and progressive lateral sclerosis (PLS). ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is characterized by an increased risk of colorectal cancer and other cancers such as endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ...

M

Disorder Mutation Chromosome
Machado-Joseph disease
see Spinocerebellar ataxia type 3
Male breast cancer
see breast cancer
Male genital disorders
Male Turner syndrome
see Noonan syndrome
Malignant neoplasm of breast
see breast cancer
malignant tumor of breast
see breast cancer
Malignant tumor of urinary bladder
see bladder cancer
Mammary cancer
see breast cancer
Marfan syndrome 15
Marker X syndrome
see fragile X syndrome
Martin-Bell syndrome
see fragile X syndrome
McCune-Albright syndrome 20 q13.2-13.3
McLeod syndrome X
Mediterranean Anemia
see beta thalassemia
Mediterranean fever, familial
Mega-epiphyseal dwarfism
see otospondylomegaepiphyseal dysplasia
Menkea syndrome
see Menkes syndrome
Menkes syndrome
Mental retardation with osteocartilaginous abnormalities
see Coffin-Lowry syndrome
Metabolic disorders
Metatropic dwarfism, type II
see Kniest dysplasia
Metatropic dysplasia type II
see Kniest dysplasia
Methemoglobinemia#beta-globin type
methylmalonic acidemia
MFS
see Marfan syndrome
MHAM
see Cowden syndrome
MK - Menkes syndrome
see Menkes syndrome
Microcephaly P 1q31 (ASPM)
MMA
see methylmalonic acidemia
MNK - Menkes syndrome
see Menkes syndrome
monosomy X
see Turner syndrome
Motor neuron disease, amyotrophic lateral sclerosis
see amyotrophic lateral sclerosis
Movement disorders
Mowat-Wilson syndrome
Mucoviscidosis
see cystic fibrosis
Muenke syndrome
Multi-Infarct dementia
see CADASIL
Multiple carboxylase deficiency, late-onset
see biotinidase deficiency
Multiple hamartoma syndrome
see Cowden syndrome
Multiple neurofibromatosis
see neurofibromatosis
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker type
Myotonia atrophica
see myotonic dystrophy
Myotonia dystrophica
see myotonic dystrophy
myotonic dystrophy
Myxedema, congenital
see congenital hypothyroidism

Machado-Joseph disease is a type of spinocerebellar ataxia caused by a mutation in the ATXN3 gene. ... Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right. ... Breast cancer is cancer of breast tissue. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... Breast cancer is cancer of breast tissue. ... Breast cancer is cancer of breast tissue. ... Bladder cancer refers to any of several types of malignant growths of the urinary bladder. ... Breast cancer is cancer of breast tissue. ... Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue characterized by disproportionately long limbs, long thin fingers, a relatively tall stature, and a predisposition to cardiovascular abnormalities, specifically those affecting the heart valves and aorta. ... Fragile X syndrome, also known as the MikyD syndrome, is a syndrome of X-linked mental retardation. ... Martin-Bell syndrome or Martin Bell-Renpenning syndrome is a syndrome comprising X-linked mental retardation in children with macroorchidism, prognathism, hypotonia and autism, and a characteristic but variable facies. ... Fragile X syndrome, also known as the MikyD syndrome, is a syndrome of X-linked mental retardation. ... McCune-Albright syndrome (polyostotic fibrous dysplasia), described in 1937 by Donovan James McCune and Fuller Albright, is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty. ... McLeod syndrome (or McLeod phenomenon) is a genetic disorder caused by presence of the McLeod phenotype, a recessive anomaly on the X chromosome which alters production of XK protein (a precursor of Kell antigens on the surface of red blood cells). ... Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ... Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ... Coffin-Lowry syndrome is a condition associated with mental retardation and delayed development, characteristic facial features, and skeletal abnormalities. ... Wikipedia does not yet have an article with this exact name. ... Kniest dysplasia is an uncommon inherited disorder of bone growth. ... Kniest dysplasia is an uncommon inherited disorder of bone growth. ... Kniest dysplasia is an uncommon inherited disorder of bone growth. ... Kniest dysplasia is an uncommon inherited disorder of bone growth. ... // Methemoglobinemia, also known as met-Hb, is a disorder characterized by the presence of a higher than normal level of methemoglobin in the blood. ... Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ... Metropolitan Fiber Systems was a telecommunications service provider aquired by Worldcom in 1997. ... Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue characterized by disproportionately long limbs, long thin fingers, a relatively tall stature, and a predisposition to cardiovascular abnormalities, specifically those affecting the heart valves and aorta. ... Cowden syndrome is an inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer. ... Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ... ASPM is a gene located on human chromosome 1, band q31 (1q31) which is associated with autosomal recessive primary microcephaly. ... Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ... Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ... Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... List of Movement disorders Akinesia (lack of movement) Athetosis (contorted torsion or twisting) Ataxia Ballismus (violent involuntary rapid and irregular movements) Hemiballismus Bradykinesia (slow movement) Chorea (rapid, involuntary movement) Sydenhams chorea Rheumatic chorea Huntingtons disease Dystonia (sustained torsion) Dystonia muscularum Blepharospasm Writers cramp Spasmodic torticollis (twisting of... Mowat Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. D. R. Mowat and Dr. M. J. Wilson in 1998 (Journal of Medical Genetics, 1998, Vol 35, 617-623)[1]. The disorder is characterized by a number of health defects including Hirschsprungs disease, mental retardation... Cystic fibrosis (CF), also called mucoviscidosis, is an autosomal recessive hereditary disease that affects the lungs, sweat glands and the digestive system. ... Muenke Syndrome, also known as FGFR3-related craniosynostosis,[1] is a condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. ... CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19 (Joutel et al, 1996). ... Biotin, also known as vitamin H or B7 and C10H16N2O3S (Biotin; Coenzyme R, Biopeiderm), is a water-soluble B-complex vitamin which is composed of an ureido ring fused with a tetrahydrothiophene ring. ... Cowden syndrome is an inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer. ... Neurofibromatosis is an autosomal dominant genetic disorder. ... Muscular dystrophy refers to a group of genetic, hereditary muscle diseases that cause progressive muscle weakness. ... Muscular dystrophy is a genetic condition that describes more than 30 genetic and hereditary muscle diseases. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. ...

N

Disorder Mutation Chromosome
Nance-Insley syndrome
see otospondylomegaepiphyseal dysplasia
Nance-Sweeney chondrodysplasia
see otospondylomegaepiphyseal dysplasia
NBIA1
see pantothenate kinase-associated neurodegeneration
Neill-Dingwall syndrome
see Cockayne syndrome
Neuroblastoma, retinal
see retinoblastoma
Neurodegeneration with brain iron accumulation type 1
see pantothenate kinase-associated neurodegeneration
Neurofibromatosis type I 17q11.2
Neurofibromatosis type II
Neurologic diseases
Neuromuscular disorders
neuronopathy, distal hereditary motor, type V
see Distal spinal muscular atrophy#type V
neuronopathy, distal edfsdflateral sclerosis#type 4
NF
see Neurofibromatosis types I & II
Niemann-Pick
see Niemann-Pick disease
NPA, NPB, NPC1, NPC2, SMPD1
Noack syndrome
see Pfeiffer syndrome
Nonketotic hyperglycinemia
see Glycine encephalopathy
Non-neuronopathic Gaucher disease
see Gaucher disease type 1
Non-phenylketonuric hyperphenylalaninemia
see tetrahydrobiopterin deficiency
nonsyndromic deafness
Noonan syndrome
Norrbottnian Gaucher disease
see Gaucher disease type 3

Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... PKAN: Pantothenate Kinase-Associated Neurodegeneration Symptoms Pantothenate kinase-associated neurodegeneration (PKAN) is one of many forms of neurodegeneration, or brain deterioration . ... It has been suggested that this article or section be merged with Cockaynes syndrome. ... Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. ... // Retinoblastoma is a cancer of the retina. ... PKAN: Pantothenate Kinase-Associated Neurodegeneration Symptoms Pantothenate kinase-associated neurodegeneration (PKAN) is one of many forms of neurodegeneration, or brain deterioration . ... Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, is a common inherited disease. ... Neurofibromatosis Type II (or MISME Syndrome, for Multiple Inherited Schwannomas, Meningiomas, and Ependymomas) is an inherited disease. ... Neurology is a branch of medicine dealing with disorders of the central and peripheral nervous systems. ... NF may mean: Navy Field National Front Neurofibromatosis New Foundations, in set theory Newfoundland and Labrador, Canada: postal code NF-Board Noise figure Norfolk Island: ISO 3166-1 alpha-2 and FIPS PUB 10-4 territory code Normal form Never Forget, a Kingdom from the online game Utopia nF may... Neurofibromatosis is an autosomal dominant genetic disorder. ... Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. ... Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. ... Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. ... Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of the amino acid glycine. ... Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of the amino acid glycine. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of a substance called phenylalanine. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ...

O

Disorder Mutation Chromosome
Ochronosis
see alkaptonuria
Ochronotic arthritis
see alkaptonuria
OI
see osteogenesis imperfecta
OSMED
see otospondylomegaepiphyseal dysplasia
osteogenesis imperfecta
Osteopsathyrosis
see osteogenesis imperfecta
Osteosclerosis congenita
see achondroplasia
Oto-spondylo-megaepiphyseal dysplasia
see otospondylomegaepiphyseal dysplasia
otospondylomegaepiphyseal dysplasia
Oxalosis
see hyperoxaluria, primary
Oxaluria, primary
see hyperoxaluria, primary

Ochronosis is a dermatological disorder that results in the adverse pigmentation of cartilage from a long term buildup of phenylalanine or tyrosine. ... Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ... Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ... OI may refer to: Owens-Illinois, a Fortune 500 company Optical illusion Osteogenesis imperfecta, a genetic bone disorder Oriental Institute Orphans International, a global charitable organization the benefits orphans and abandoned children Oratorical Interpretation, a forensics category The letter gha, misnamed by ISO as LATIN LETTER OI, although it is... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ... Circus Busch, 1906 Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. ... Oxalic acid is the chemical compound with the formula H2C2O4. ... Oxalic acid is the chemical compound with the formula H2C2O4. ...

P

Disorder Mutation Chromosome
pantothenate kinase-associated neurodegeneration
Patau Syndrome (Trisomy 13)
PBGD deficiency
see acute intermittent porphyria
PCC deficiency
see propionic acidemia
PCT
see porphyria cutanea tarda
PDM
see Myotonic dystrophy#type 2
Pendred syndrome
Periodic disease
see Mediterranean fever, familial
Periodic peritonitis
see Mediterranean fever, familial
Periorificial lentiginosis syndrome
see Peutz-Jeghers syndrome
Peripheral nerve disorders
see familial dysautonomia
Peripheral neurofibromatosis
see neurofibromatosis 1
Peroneal muscular atrophy
see Charcot-Marie-Tooth disease
peroxisomal alanine:glyoxylate aminotransferase deficiency
see hyperoxaluria, primary
Peutz-Jeghers syndrome
Pfeiffer syndrome
Phenylalanine hydroxylase deficiency disease
see phenylketonuria
phenylketonuria
Pheochromocytoma
see von Hippel-Lindau disease
Pierre Robin syndrome with fetal chondrodysplasia
see Weissenbacher-Zweymüller syndrome
Pigmentary cirrhosis
see hemochromatosis
PJS
see Peutz-Jeghers syndrome
PKAN
see pantothenate kinase-associated neurodegeneration
PKU
see phenylketonuria
Plumboporphyria
see ALA deficiency porphyria
PMA
see Charcot-Marie-tooth disease
polyostotic fibrous dysplasia
see McCune-Albright syndrome
20 q13.2-13.3
polyposis coli
see familial adenomatous polyposis
polyposis, hamartomatous intestinal
see Peutz-Jeghers syndrome
polyposis, intestinal, II
see Peutz-Jeghers syndrome
polyps-and-spots syndrome
see Peutz-Jeghers syndrome
Porphobilinogen synthase deficiency
see ALA deficiency porphyria
porphyria
porphyrin disorder
see porphyria
PPH
see primary pulmonary hypertension
PPOX deficiency
see variegate porphyria
Prader-Labhart-Willi syndrome
see Prader-Willi syndrome
Prader-Willi syndrome
presenile and senile dementia
see Alzheimer disease
primary hemochromatosis
see hemochromatosis
primary hyperuricemia syndrome
see Lesch-Nyhan syndrome
primary pulmonary hypertension
primary senile degenerative dementia
see Alzheimer disease
prion disease
procollagen type EDS VII, mutant
see Ehlers-Danlos syndrome#arthrochalasia type
progeria
see Hutchinson Gilford progeria syndrome
Progeria-like syndrome
see Cockayne syndrome
progeroid nanism
see Cockayne syndrome
progressive chorea, chronic hereditary (Huntington)
see Huntington disease
progressive muscular atrophy
see spinal muscular atrophy
progressively deforming osteogenesis imperfecta with normal sclerae
see Osteogenesis imperfecta#type III
PROMM
see Myotonic dystrophy#type 2
propionic acidemia
propionyl-CoA carboxylase deficiency
see propionic acidemia
protein C deficiency
protein S deficiency
protoporphyria
see erythropoietic protoporphyria
protoporphyrinogen oxidase deficiency
see variegate porphyria
proximal myotonic dystrophy
see Myotonic dystrophy#type 2
proximal myotonic myopathy
see Myotonic dystrophy#type 2
pseudo-Gaucher disease
pseudo-Ullrich-Turner syndrome
see Noonan syndrome
pseudoxanthoma elasticum
psychosine lipidosis
see Krabbe disease
pulmonary arterial hypertension
see primary pulmonary hypertension
pulmonary hypertension
see primary pulmonary hypertension
PWS
see Prader-Willi syndrome
PXE - pseudoxanthoma elasticum
see pseudoxanthoma elasticum

PKAN: Pantothenate Kinase-Associated Neurodegeneration Symptoms Pantothenate kinase-associated neurodegeneration (PKAN) is one of many forms of neurodegeneration, or brain deterioration . ... Patau syndrome, also known as trisomy 13, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a non-disjunction of chromosomes during meiosis. ... Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ... Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. ... PCT can mean: Parti Communiste du Togo Primary Care Trust within the UK National Health Service Pacific Crest Trail, a hiking trail that runs along the west cost of the United States, from Mexico to Canada. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... PDM may stand for: Personal data manager - portable hardware tool enabling secure storage and easy access to user data. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Pendred syndrome or Pendred disease is a genetic disorder leading to sensorineural hearing loss and goitre with occasional hypothyroidism. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Peutz-Jeghers is an autosomal dominant genetic disease. ... Familial dysautonomia, or FD, is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure... Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, comprises, along with neurofibromatosis type II (a. ... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... Oxalic acid is the chemical compound with the formula H2C2O4. ... Peutz-Jeghers is an autosomal dominant genetic disease. ... Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. ... PhenylKetonUria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). ... PhenylKetonUria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). ... A phaeochromocytoma (pheochromocytoma in the US) is a neuroendocrine tumor of the medulla of the adrenal glands originating in the chromaffin cells, which secretes excessive amounts of catecholamines, usually adrenaline and noradrenaline (epinephrine and norepinephrine in the US). ... Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ... Weissenbacher-Zweymuller syndrome is a genetic disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Peutz-Jeghers is an autosomal dominant genetic disease. ... Peutz-Jeghers is an autosomal dominant genetic disease. ... Pantothenate kinase-associated neurodegeneration (PKAN) is a degenerative disease of the brain, which can lead to parkinsonism. ... PKAN: Pantothenate Kinase-Associated Neurodegeneration Symptoms Pantothenate kinase-associated neurodegeneration (PKAN) is one of many forms of neurodegeneration, or brain deterioration . ... Phenylketonuria fee-nil-kee-ton-yur-ee-aah+ (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish to fewer than one in 100,000 births among... PhenylKetonUria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). ... 8 pills of PMA recovered by the DEA PMA structure PMA 3D structure PMA (paramethoxyamphetamine, or p-methoxyamphetamine) is a synthetic phenethylamine drug, psychostimulant and hallucinogen. ... McCune-Albright syndrome (polyostotic fibrous dysplasia), described in 1937 by Donovan James McCune and Fuller Albright, is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty. ... McCune-Albright syndrome (polyostotic fibrous dysplasia), described in 1937 by Donovan James McCune and Fuller Albright, is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty. ... Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. ... Peutz-Jeghers is an autosomal dominant genetic disease. ... Peutz-Jeghers is an autosomal dominant genetic disease. ... Peutz-Jeghers is an autosomal dominant genetic disease. ... Peutz-Jeghers is an autosomal dominant genetic disease. ... Peutz-Jeghers is an autosomal dominant genetic disease. ... It has been suggested that Acute intermittent porphyria be merged into this article or section. ... It has been suggested that Acute intermittent porphyria be merged into this article or section. ... In medicine, pulmonary hypertension (PH) or pulmonary artery hypertension (PAH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ... In medicine, pulmonary hypertension (PH) or pulmonary artery hypertension (PAH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Prader-Willi syndrome is a genetic disorder, in which seven genes (or some subset thereof) on chromosome 15 are missing or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. ... Prader-Willi syndrome is a genetic disorder, in which seven genes (or some subset thereof) on chromosome 15 are missing or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... In medicine, pulmonary hypertension (PH) or pulmonary artery hypertension (PAH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ... Transmissible spongiform encephalopathies (TSEs, also known as prion diseases) are a group of progressive conditions that affect the brain and nervous system of humans and animals and are transmitted by prions. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ... The term Progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is also used more generally to describe any of the so-called accelerated aging diseases. The word progeria is derived from the Greek for prematurely old. Because the accelerated aging diseases display different aspects of aging, but... Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. ... Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. ... Progressive muscular atrophy (PMA) is a rare subtype of Motor neurone disease (MND) which affects only the lower motor neurones. ... Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem. ... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. ... Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. ... How to recognize Protein C deficiency ... Protein S deficiency is a disorder associated with increased risk of thrombosis. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... Category: ... Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ... In medicine, pulmonary hypertension (PH) or pulmonary artery hypertension (PAH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ... In medicine, pulmonary hypertension (PH) is an increase in blood pressure in the pulmonary artery or lung vasculature, leading to shortness of breath, dizziness, fainting, and other symptoms, all of which are exacerbated by exertion. ... In medicine, pulmonary hypertension (PH) or pulmonary artery hypertension (PAH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ... PWS is an acronym for: Prader-Willi syndrome Personal Web Server and Windows Personal Web Server PWS - the aircraft of the Polish manufacturer Podlaska Wytwórnia Lotnicza PWS Australia - A Christian ministry currently operating in schools of the South Pacific. ... Prader-Willi syndrome is a genetic disorder, in which seven genes (or some subset thereof) on chromosome 15 are missing or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. ... Category: ...

R

Disorder Mutation Chromosome
Rb
see retinoblastoma
Recklinghausen disease, nerve
see neurofibromatosis 1
Recurrent polyserositis
see Mediterranean fever, familial
Retinal disorders
Retinitis pigmentosa-deafness syndrome
see Usher syndrome
retinoblastoma
Rett syndrome
RFALS type 3
see Amyotrophic lateral sclerosis#type 2
Ricker syndrome
see Myotonic dystrophy#type 2
Riley-Day syndrome
see familial dysautonomia
Roussy-Levy syndrome
see Charcot-Marie-Tooth disease
RSTS
see Rubinstein-Taybi syndrome
RTS
see Rett syndrome
see Rubinstein-Taybi syndrome
RTT
see Rett syndrome
Rubinstein-Taybi syndrome

RB or Rb may stand for: the chemical element Rubidium. ... // Retinoblastoma is a cancer of the retina. ... Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, comprises, along with neurofibromatosis type II (a. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Usher syndrome is a genetic disease causing deaf-blindness. ... // Retinoblastoma is a cancer of the retina. ... A woman with Retts Syndrome Rett syndrome is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. Many [1] argue that this is a mis-classification just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down... Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrigs Disease, Maladie de Charcot or motor neurone disease) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Familial dysautonomia, or FD, sometimes called Riley-Day syndrome[1] is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears... Familial dysautonomia, or FD, is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure... Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms... RSTS/E (an acronym for Resource Sharing Time Sharing Extended) was a multi-user time-shared operating system developed by Digital Equipment Corporation (DEC) for the PDP-11 series of 16-bit minicomputers, and used primarily during the 1970s and 1980s, although some installations were still being upgraded well into... Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. ... RTS may refer to: General Real-time strategy, a genre of video games Ronald Reagan Ballistic Missile Defense Test Site, also known as the Reagan Test Site Reclaim the Streets, an anarchist organization The Rapid Transit Series, a long running bus model originally manufactured by General Motors Corporation Return to... A woman with Retts Syndrome Rett syndrome is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. Many [1] argue that this is a mis-classification just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down... Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. ... RTT may be: Real-time tactics, genre of strategy games Round-trip delay time, in telecommunications Ramified Theory of Types, mathematics Type Theory of Russel and Whitehead Rett syndrome Reload the Three is also another name. ... A woman with Retts Syndrome Rett syndrome is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. Many [1] argue that this is a mis-classification just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down... Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. ...

S

Disorder Mutation Chromosome
Sack-Barabas syndrome
see Ehlers-Danlos syndrome, vascular type
SADDAN
sarcoma family syndrome of Li and Fraumeni
see Li-Fraumeni syndrome
sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
see Li-Fraumeni syndrome
SBLA syndrome
see Li-Fraumeni syndrome
SBMA
see X-linked spinal-bulbar muscle atrophy
SCD
see sickle cell anemia
Schwannoma, acoustic, bilateral
see neurofibromatosis 2
SCIDX1
see X-linked severe combined immunodeficiency
sclerosis tuberosa
see tuberous sclerosis
SDAT
see Alzheimer disease
SED congenita
see spondyloepiphyseal dysplasia congenita
SED Strudwick
see spondyloepimetaphyseal dysplasia, Strudwick type
SEDc
see spondyloepiphyseal dysplasia congenita
SEMD, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
senile dementia
see Alzheimer disease#type 2
severe achondroplasia with developmental delay and acanthosis nigricans
see SADDAN
Shprintzen syndrome
see 22q11.2 deletion syndrome
D 22q
sickle cell anemia
skeleton-skin-brain syndrome
see SADDAN
Skin pigmentation disorders
SMA
see spinal muscular atrophy
SMED, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
SMED, type I
see spondyloepimetaphyseal dysplasia, Strudwick type
South-African genetic porphyria
see variegate porphyria
spastic paralysis, infantile onset ascending
see infantile-onset ascending hereditary spastic paralysis
Speech and communication disorders
sphingolipidosis, Tay-Sachs
see Tay-Sachs disease
spinal-bulbar muscular atrophy
spinal muscular atrophy
spinal muscular atrophy, distal type V
see Distal spinal muscular atrophy#type V
spinal muscular atrophy, distal, with upper limb predominance
see Distal spinal muscular atrophy#type V
spinocerebellar ataxia
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia
see collagenopathy, types II and XI
spondylometaepiphyseal dysplasia congenita, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
spondylometaphyseal dysplasia (SMD)
see spondyloepimetaphyseal dysplasia, Strudwick type
spondylometaphyseal dysplasia, Strudwick type
see spondyloepimetaphyseal dysplasia, Strudwick type
spongy degeneration of central nervous system
see Canavan disease
spongy degeneration of the brain
see Canavan disease
spongy degeneration of white matter in infancy
see Canavan disease
sporadic primary pulmonary hypertension
see primary pulmonary hypertension
SSB syndrome
see SADDAN
steely hair syndrome
see Menkes syndrome
Steinert disease
see myotonic dystrophy
Steinert myotonic dystrophy syndrome
see myotonic dystrophy
Stickler syndrome
stroke
see CADASIL
Strudwick syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type
subacute neuronopathic Gaucher disease
see Gaucher disease type 3
Swedish genetic porphyria
see acute intermittent porphyria
Swedish porphyria
see acute intermittent porphyria
Swiss cheese cartilage dysplasia
see Kniest dysplasia

It has been suggested that this article or section be merged with Ehlers-Danlos syndrome, vascular type. ... It has been suggested that this article or section be merged with Sack-Barabas syndrome. ... SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities. ... Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. ... Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. ... Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. ... The Subic Bay Metropolitan Authority (SBMA) is the operating and implementing arm of the Government of the Philippines for the development the 262 square mile (670 square kilometer) area of Subic Bay Freeport (SBF) or what was the former US Naval facility in Subic Bay into a self-sustaining tourism... Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... Sc. ... Sickle-shaped red blood cells Sickle cell anemia (American English), sickle cell anaemia (British English) or sickle cell disease is a genetic disease in which red blood cells may change shape under certain circumstances. ... Neurofibromatosis Type II (or MISME Syndrome, for Multiple Inherited Schwannomas, Meningiomas, and Ependymomas) is an inherited disease. ... It has been suggested that this article or section be merged into Severe combined immunodeficiency. ... Tuberous sclerosis, (meaning hard potatoes), is a rare genetic disorder primarily characterized by a triad of seizures, mental retardation, and skin lesions (called adenoma sebaceum). ... Tuberous sclerosis is a rare genetic disorder characterized by a triad of signs: seizures, mental retardation, and small benign facial skin tumors (angiofibromas). ... Spondyloepiphyseal dysplasia congenita is an rare inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision and hearing. ... Spondyloepiphyseal dysplasia congenita is an rare inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision and hearing. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepiphyseal dysplasia congenita is an rare inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision and hearing. ... Spondyloepiphyseal dysplasia congenita is an rare inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision and hearing. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Dementia (from Latin demens) is progressive decline in cognitive function due to damage or disease in the brain beyond what might be expected from normal aging. ... Alzheimers disease (AD) or senile dementia of Alzheimers type is a neurodegenerative disease which results in a loss of mental functions due to the deterioration of brain tissue. ... SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities. ... 22 q11 microdeletion syndrome is a birth defect caused by a genetic abnormality that occurs in approximately one in 700 births. ... 22q11. ... Sickle-shaped red blood cells Sickle cell anemia (American English), sickle cell anaemia (British English) or sickle cell disease is a genetic disease in which red blood cells may change shape under certain circumstances. ... SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities. ... SMA is a TLA that may stand for: Saint Marys Academy, Rawalpindi San Marcos Baptist Academy Santa Monica Airlines, a skateboard manufacturer Sarasota Military Academy, the worst school on Earth Supplementary motor area San Manuel Arizona Railroad (AAR reporting mark SMA) Sergeant Major of the Army (USA) Shape memory... Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in all forms. ... Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem. ... Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepiphyseal dysplasia congenita is an rare inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision and hearing. ... Spondyloepiphyseal dysplasia congenita is an rare inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision and hearing. ... The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the bodys joints and organs. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... In medicine, pulmonary hypertension (PH) or pulmonary artery hypertension (PAH) is an increase in blood pressure in the pulmonary artery or lung vasculature. ... SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities. ... Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. ... Stroke (or cerebrovascular accident or CVA) is the clinical designation for a rapidly developing loss of brain function due to an interruption in the blood supply to all or part of the brain. ... CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19 (Joutel et al, 1996). ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ... Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ... Kniest dysplasia is an uncommon inherited disorder of bone growth. ... Kniest dysplasia is an uncommon inherited disorder of bone growth. ...

T

Disorder Mutation Chromosome
Tay-Sachs disease
TD - thanatophoric dwarfism
see thanatophoric dysplasia
TD with straight femurs and cloverleaf skull
see thanatophoric dysplasia#Type 2
Telangiectasia, cerebello-oculocutaneous
see ataxia-telangiectasia
Testicular feminization syndrome
see androgen insensitivity syndrome
tetrahydrobiopterin deficiency
TFM - testicular feminization syndrome
see androgen insensitivity syndrome
thalassemia intermedia
see beta thalassemia
Thalassemia Major
see beta thalassemia
thanatophoric dysplasia
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type
see factor V Leiden thrombophilia
Thyroid disease
Tomaculous neuropathy
see hereditary neuropathy with liability to pressure palsies
Total HPRT deficiency
see Lesch-Nyhan syndrome
Total hypoxanthine-guanine phosphoribosyl transferase deficiency
see Lesch-Nyhan syndrome
Transmissible dementias
see prion disease
Transmissible spongiform encephalopathies
see prion disease
Treacher Collins syndrome 5q32-q33.1
Trias fragilitis ossium
see osteogenesis imperfecta#Type I
triple X syndrome
Triplo X syndrome
see triple X syndrome
Trisomy 21
see Down syndrome
Trisomy X
see triple X syndrome
Troisier-Hanot-Chauffard syndrome
see hemochromatosis
TS
see Turner syndrome
TSD
see Tay-Sachs disease
TSEs
see prion disease
tuberose sclerosis
see tuberous sclerosis
tuberous sclerosis
Turner syndrome
Turner syndrome in female with X chromosome
see Noonan syndrome
Turner's phenotype, karyotype normal
see Noonan syndrome
Turner's syndrome
see Turner syndrome
Turner-like syndrome
see Noonan syndrome
Type 2 Gaucher disease
see Gaucher disease type 2
Type 3 Gaucher disease
see Gaucher disease type 3

Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in all forms. ... Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. ... Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. ... Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of a substance called phenylalanine. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. ... Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. ... Factor V Leiden (sometimes Factor VLeiden) is a hypercoagulability disorder in which Factor V, one of the coagulation factors, cannot be deactivated. ... The thyroid gland and its relations The thyroid is one of the larger endocrine glands in the body. ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... Transmissible spongiform encephalopathies (TSEs, also known as prion diseases) are a group of progressive conditions that affect the brain and nervous system of humans and animals and are transmitted by prions. ... Neither this nor any other article from the Wikimedia Foundation should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine. ... Transmissible spongiform encephalopathies (TSEs, also known as prion diseases) are a group of progressive conditions that affect the brain and nervous system of humans and animals and are transmitted by prions. ... Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. ... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... Triple X syndrome is a chromosomal aneuploid abnormality characterized by the presence of an extra X chromosome in each cell of a human female. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... A child with Down syndrome Down syndrome (also called Downs syndrome) encompasses a number of genetic disorders, of which trisomy 21 (a nondisjunction) is the most representative, causing highly variable degrees of learning difficulties and physical disabilities. ... Also known as Triplo-x and 47xxx, Trisomy-x is a chromosonal constitution in females where the individual has an extra x chromosone. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in all forms. ... Transmissible spongiform encephalopathies (TSEs, also known as prion diseases) are a group of progressive conditions that affect the brain and nervous system of humans and animals and are transmitted by prions. ... Transmissible spongiform encephalopathies (TSEs, also known as prion diseases) are a group of progressive conditions that affect the brain and nervous system of humans and animals and are transmitted by prions. ... Tuberous sclerosis is a rare genetic disorder characterized by a triad of signs: seizures, mental retardation, and small benign facial skin tumors (angiofibromas). ... Tuberous sclerosis is a rare genetic disorder characterized by a triad of signs: seizures, mental retardation, and small benign facial skin tumors (angiofibromas). ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ... Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ...

U

Disorder Mutation Chromosome
UDP-galactose-4-epimerase deficiency disease
see galactosemia
UDP glucose 4-epimerase deficiency disease
see galactosemia
UDP glucose hexose-1-phosphate uridylyltransferase deficiency
see galactosemia
Ullrich-Noonan syndrome
see Noonan syndrome
Ullrich-Turner syndrome
see Turner syndrome
Undifferentiated deafness
see nonsyndromic deafness
UPS deficiency
see acute intermittent porphyria
Urinary bladder cancer
see bladder cancer
UROD deficiency
see porphyria cutanea tarda
Uroporphyrinogen decarboxylase deficiency
see porphyria cutanea tarda
Uroporphyrinogen synthase deficiency
see acute intermittent porphyria
UROS deficiency
see congenital erythropoietic porphyria
Usher syndrome
UTP hexose-1-phosphate uridylyltransferase deficiency
see galactosemia

Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... Turner syndrome or Ullrich-Turner syndrome encompasses several chromosomal abnormalities, of which monosomy X is the most common. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ... Bladder cancer refers to any of several types of malignant growths of the urinary bladder. ... Bladder cancer refers to any of several types of malignant growths of the urinary bladder. ... Porphyria cutanea tarda is the most common type of porphyria. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Usher syndrome is a genetic disease causing deaf-blindness. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ...

V

Disorder Mutation Chromosome
Van Bogaert-Bertrand syndrome
see Canavan disease
Van der Hoeve syndrome
see osteogenesis imperfecta#Type I
variegate porphyria
Velocardiofacial syndrome
see 22q11.2 deletion syndrome
D 22q
VHL syndrome
see von Hippel-Lindau disease
Vision impairment and blindness
see Alstrom syndrome
Von Bogaert-Bertrand disease
see Canavan disease
von Hippel-Lindau disease
Von Recklenhausen-Applebaum disease
see hemochromatosis
von Recklinghausen disease
see neurofibromatosis 1
VP
see variegate porphyria
Vrolik disease
see osteogenesis imperfecta

Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... 22 q11 microdeletion syndrome is a birth defect caused by a genetic abnormality that occurs in approximately one in 700 births. ... 22q11. ... Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ... Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ... Alström syndrome is a rare genetic disorder. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ... Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... In medicine, the neurofibromatoses (singular, neurofibromatosis) are certain genetic disorders of the nervous system. ... Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, comprises, along with neurofibromatosis type II (a. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Osteogenesis imperfecta is a group of genetic bone disorders. ... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ...

W

Disorder Mutation Chromosome
Waardenburg syndrome
WD - Wilson's disease
see Wilson disease
Weissenbacher-Zweymüller syndrome
Wilson disease
Wilson's disease
see Wilson disease
Wolff Periodic disease
see Mediterranean fever, familial
WZS
see Weissenbacher-Zweymüller syndrome

Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies. ... Wilsons disease or hepatolenticular degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000 in most parts of the world and a male preponderance. ... Wilsons disease is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000. ... Weissenbacher-Zweymuller syndrome is a genetic disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21. ... Wilsons disease is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000. ... Wilsons disease or hepatolenticular degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000 in most parts of the world and a male preponderance. ... Wilsons disease is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Weissenbacher-Zweymuller syndrome is a genetic disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21. ... Weissenbacher-Zweymuller syndrome is a genetic disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21. ...

X

Disorder Mutation Chromosome
Xeroderma Pigmentosum ERCC4 15
X-linked mental retardation and macroorchidism
see fragile X syndrome
X-linked primary hyperuricemia
see Lesch-Nyhan syndrome
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked spinal-bulbar muscle atrophy
see Kennedy disease
X-linked uric aciduria enzyme defect
see Lesch-Nyhan syndrome
X-SCID
see X-linked severe combined immunodeficiency
XLSA
see X-linked sideroblastic anemia
XSCID
see X-linked severe combined immunodeficiency
XXX syndrome
see triple X syndrome
XXXX syndrome
XXY syndrome
see Klinefelter syndrome
XXY trisomy
see Klinefelter syndrome
XYY karyotype
see 47,XYY syndrome
XYY syndrome
see 47,XYY syndrome

This article does not cite any references or sources. ... It has been suggested that Martin-Bell syndrome be merged into this article or section. ... Fragile X syndrome, also known as the MikyD syndrome, is a syndrome of X-linked mental retardation. ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... It has been suggested that this article or section be merged into Severe combined immunodeficiency. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... Kennedys disease (KD) or X-linked spinal-bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutations of the androgen receptor (AR). ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ... -1... X-linked Severe Combined Immunodeficiency (X-SCID) is a profound and severe immunodeficiency characterized by the complete absence of NK cells and T cells in the peripheral blood. ... It has been suggested that this article or section be merged into Severe combined immunodeficiency. ... For the poem by Robert Browning see Porphyrias Lover. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Severe Combined Immunodeficiency, or SCID, is a genetic disorder in which both arms (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. ... It has been suggested that this article or section be merged into Severe combined immunodeficiency. ... Triple X syndrome is a chromosomal aneuploid abnormality characterized by the presence of an extra X chromosome in each cell of a human female. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... XXXX syndrome (also called tetrasomy X, quadruple X, or 48, XXXX) is a rare chromosomal disorder caused by the presence of four X chromosomes instead of two X chromosomes, which are normally found in females. ... XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... Klinefelters syndrome is a condition caused by a chromosome nondisjunction in males; affected individuals have a pair of X sex chromosomes instead of just one. ... XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... XYY, or XYY syndrome, is a trisomy of the sex chromosomes in which a human male receives an extra Y chromosome in each cell, hence having a karyotype of 47,XYY. Effects Physical traits XYY syndrome typically causes no unusual physical features or medical problems. ... XYY, or XYY syndrome, is a trisomy of the sex chromosomes in which a human male receives an extra Y chromosome in each cell, hence having a karyotype of 47,XYY. Effects Physical traits XYY syndrome typically causes no unusual physical features or medical problems. ... Not to be confused with XXY syndrome. ... XYY, or XYY syndrome, is a trisomy of the sex chromosomes in which a human male receives an extra Y chromosome in each cell, hence having a karyotype of 47,XYY. Effects Physical traits XYY syndrome typically causes no unusual physical features or medical problems. ...

Y

Disorder Mutation Chromosome
YY syndrome
see 47,XYY syndrome

  Results from FactBites:
 
Genetic disorder - Wikipedia, the free encyclopedia (1373 words)
There are genetic disorders caused by the abnormal chromosome number, as in Down syndrome (extra chromosome 21) and Klinefelter's syndrome (a male with 2 X chromosomes).
X-linked dominant disorders are caused by mutations in genes on the X chromosome.
Y-linked disorders are caused by mutations on the Y chromosome.
List of genetic disorders to research: (266 words)
After some discussion about her health and some probing by the family physician into your family's history, you are referred to a genetic counselor.
You were referred to a genetic counselor before deciding to have more children.
You are unexpectedly pregnant with a second child and have been referred to a genetic counselor.
  More results at FactBites »

 
 

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