List of genetic disorders - AbsoluteAstronomy.com

The following is a list of genetic disorder
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....

s and if known, causal type of mutation

Mutation

In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...

and the chromosome

Chromosome

A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...

involved. The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases.

P – Point mutation
Point mutation
A point mutation, or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide of the genetic material, DNA or RNA. Often the term point mutation also includes insertions or deletions of a single base pair...

, or any insertion/deletion entirely inside one gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
D – Deletion of a gene or genes
C – Whole chromosome extra, missing, or both (see chromosomal aberrations)
T – Trinucleotide repeat disorders: gene is extended in length

More common disorders

Disorder	Mutation	Chromosome
22q11.2 deletion syndrome	D	22q
Angelman syndrome Angelman syndrome Angelman syndrome is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements , frequent laughter or smiling, and usually a happy demeanor....	DCP	15
Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...		17p
Coeliac disease Coeliac disease Coeliac disease , is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward...
Charcot–Marie–Tooth disease
Color blindness Color blindness Color blindness or color vision deficiency is the inability or decreased ability to see color, or perceive color differences, under lighting conditions when color vision is not normally impaired...	P	X
Cri du chat Cri du chat Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by...	D	5
Cystic fibrosis Cystic fibrosis Cystic fibrosis is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine...	P	7q
Down syndrome Down syndrome Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...	C	21
Duchenne muscular dystrophy Duchenne muscular dystrophy Duchenne muscular dystrophy is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. The incidence is 1 in 3,000 boys. Females and males are affected, though females are rarely affected and are more often carriers...	D	Xp
Haemochromatosis Haemochromatosis Haemochromatosis type 1 is a hereditary disease characterized by excessive intestinal absorption of dietary iron resulting in a pathological increase in total body iron stores. Humans, like most animals, have no means to excrete excess iron...	P	6
Haemophilia Haemophilia Haemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Haemophilia A is the most common form of the disorder, present in about 1 in 5,000–10,000 male births...	P	X
Klinefelter's syndrome Klinefelter's syndrome Klinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome...	C	X
Neurofibromatosis Neurofibromatosis Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors that may be benign or may cause serious damage by compressing nerves and other tissues...		17q/22q/?
Phenylketonuria Phenylketonuria Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...	P	12q
Polycystic kidney disease Polycystic kidney disease Autosomal dominant polycystic kidney disease is an inherited systemic disorder that predominantly affects the kidneys, but may affect other organs including the liver, pancreas, brain, and arterial blood vessels...	P	16 (PKD1 PKD1 Polycystin-1 is a protein that in humans is encoded by the PKD1 gene.-Gene product:-Function:Polycystin-1 is a glycoprotein which contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail... ) or 4 (PKD2)
Prader–Willi syndrome	DC	15
Sickle-cell disease Sickle-cell disease Sickle-cell disease , or sickle-cell anaemia or drepanocytosis, is an autosomal recessive genetic blood disorder with overdominance, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various...	P	11p
Tay–Sachs disease	P	15
Turner syndrome Turner syndrome Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...	C	X

Full list

Sortable table
Disorder name	Mutation type	Chromosome
1p36 deletion syndrome 1p36 deletion syndrome 1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features...	D	1p36
18p deletion syndrome	D	18p
21-hydroxylase deficiency		6p21.3
45,X see Turner syndrome Turner syndrome Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...	C	X
47,XX,+21 see Down syndrome Down syndrome Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...	C	21
47,XXX see triple X syndrome Triple X syndrome 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. The condition always produces females, with an XX pair of chromosomes, as well as an additional chromosome, resulting in the formation of XXX. A mosaic form...	C	X
47,XXY see Klinefelter's syndrome Klinefelter's syndrome Klinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome...	C	X
47,XY,+21 see Down syndrome Down syndrome Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...	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 Cri du chat Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by...	D	5p
5p- syndrome see Cri du chat Cri du chat Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by...	D	5p
A-T see ataxia telangiectasia Ataxia telangiectasia Ataxia telangiectasia is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease...
AAT see alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin , leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells...
Absence of vas deferens see congenital absence of the vas deferens Congenital absence of the vas deferens Congenital absence of the vas deferens is a condition in which the vasa deferentia, male reproductive organs, fail to form properly prior to birth. It may either be unilateral or bilateral .-Presentation:...
Absent vasa see congenital absence of the vas deferens Congenital absence of the vas deferens Congenital absence of the vas deferens is a condition in which the vasa deferentia, male reproductive organs, fail to form properly prior to birth. It may either be unilateral or bilateral .-Presentation:...
aceruloplasminemia Aceruloplasminemia Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus....
ACG2 see achondrogenesis type II
ACH see achondroplasia Achondroplasia Achondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...
Achondrogenesis type II
achondroplasia Achondroplasia Achondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...	substitution	4p16.3
Acid beta-glucosidase deficiency see Gaucher disease type 1
Acrocephalosyndactyly (Apert) see Apert syndrome Apert syndrome Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible...
acrocephalosyndactyly, type V see Pfeiffer syndrome Pfeiffer syndrome Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull , which prevents further growth of the skull and affects the shape of the head and face...
Acrocephaly see Apert syndrome Apert syndrome Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible...
Acute cerebral Gaucher's disease see Gaucher disease type 2
acute intermittent porphyria Acute intermittent porphyria Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
ACY2 deficiency see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
AD see Alzheimer's disease Alzheimer's disease Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
Adelaide-type craniosynostosis see Muenke syndrome Muenke syndrome Muenke Syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. Muenke syndrome occurs in about 1 in 30,000 newborns...
Adenomatous Polyposis Coli see familial adenomatous polyposis Familial adenomatous polyposis Familial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
Adenomatous Polyposis of the Colon see familial adenomatous polyposis Familial adenomatous polyposis Familial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
ADP see ALA dehydratase deficiency
adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside and succinyladenosine in cerebrospinal fluid, urine, and to a lesser extent in plasma.These...
Adrenal gland disorders see 21-hydroxylase deficiency
Adrenogenital syndrome see 21-hydroxylase deficiency
Adrenoleukodystrophy Adrenoleukodystrophy Adrenoleukodystrophy is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin...
AIP see acute intermittent porphyria Acute intermittent porphyria Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
AIS see androgen insensitivity syndrome Androgen insensitivity syndrome Androgen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as...
AKU see alkaptonuria Alkaptonuria Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
ALA dehydratase porphyria see ALA dehydratase deficiency
ALA-D porphyria see ALA dehydratase deficiency
ALA dehydratase deficiency
Alcaptonuria see alkaptonuria Alkaptonuria Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
Alexander disease Alexander disease Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
alkaptonuria Alkaptonuria Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
Alkaptonuric ochronosis see alkaptonuria Alkaptonuria Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin , leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells...
alpha-1 proteinase inhibitor see alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin , leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells...		14q32.1
alpha-1 related emphysema see alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin , leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells...		14q32.1
Alpha-galactosidase A deficiency see Fabry disease	P	Xq22.1
ALS see amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis , also referred to as Lou Gehrig's disease, is a form of motor neuron disease caused by the degeneration of upper and lower neurons, located in the ventral horn of the spinal cord and the cortical neurons that provide their efferent input...
Alström syndrome Alstrom syndrome Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries. It was first described by Carl-Henry Alström in...
ALX see Alexander disease Alexander disease Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
Alzheimer's disease Alzheimer's disease Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
Amelogenesis imperfecta Amelogenesis imperfecta Amelogenesis imperfecta presents with abnormal formation of the enamel or external layer of teeth. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it...
Amino levulinic acid dehydratase deficiency see ALA dehydratase deficiency
Aminoacylase 2 deficiency see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis , also referred to as Lou Gehrig's disease, is a form of motor neuron disease caused by the degeneration of upper and lower neurons, located in the ventral horn of the spinal cord and the cortical neurons that provide their efferent input...
Anderson-Fabry disease see Fabry disease	P	Xq22.1
androgen insensitivity syndrome Androgen insensitivity syndrome Androgen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as...
Anemia Anemia Anemia is a decrease in number of red blood cells or less than the normal quantity of hemoglobin in the blood. However, it can include decreased oxygen-binding ability of each hemoglobin molecule due to deformity or lack in numerical development as in some other types of hemoglobin...
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 Angelman syndrome Angelman syndrome is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements , frequent laughter or smiling, and usually a happy demeanor....
Angiokeratoma Corporis Diffusum see Fabry disease	P	Xq22.1
Angiokeratoma diffuse see Fabry 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 Apert syndrome Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible...
AR deficiency see androgen insensitivity syndrome Androgen insensitivity syndrome Androgen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as...
AR-CMT2 see Charcot-Marie-Tooth disease, type 2
Arachnodactyly see Marfan syndrome Marfan syndrome Marfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers....
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 Angelman syndrome Angelman syndrome is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements , frequent laughter or smiling, and usually a happy demeanor....
Asp deficiency see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
Aspa deficiency see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
Aspartoacylase deficiency see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
ataxia telangiectasia Ataxia telangiectasia Ataxia telangiectasia is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease...
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome see Rett syndrome Rett syndrome Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...
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 Pendred syndrome Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism . There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of...
AxD see Alexander disease Alexander disease Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
Ayerza syndrome see primary pulmonary hypertension
B variant of the Hexosaminidase GM2 gangliosidosis see Sandhoff disease Sandhoff disease Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
BANF see neurofibromatosis type II Neurofibromatosis type II Neurofibromatosis Type II is an inherited disease. The main manifestation of the disease is the development of symmetric, non-malignant brain tumours in the region of the cranial nerve VIII, which is the auditory-vestibular nerve that transmits sensory information from the inner ear to the...
Beare-Stevenson cutis gyrata syndrome		10q26
Benign paroxysmal peritonitis see Mediterranean fever, familial
Benjamin syndrome Benjamin syndrome Benjamin Syndrome is a type of multiple congenital anomaly/mental retardation syndrome. It is characterized by hypochromic anemia with mental deficiency and various craniofacial and other anomalies. It can also include heart murmur, dental caries and splenic tumors.It was first described in the...
beta-thalassemia Beta-thalassemia Beta-thalassemias are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated...
BH4 Deficiency see tetrahydrobiopterin deficiency Tetrahydrobiopterin deficiency Tetrahydrobiopterin deficiency , also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners...
Bilateral Acoustic Neurofibromatosis see neurofibromatosis type II Neurofibromatosis type II Neurofibromatosis Type II is an inherited disease. The main manifestation of the disease is the development of symmetric, non-malignant brain tumours in the region of the cranial nerve VIII, which is the auditory-vestibular nerve that transmits sensory information from the inner ear to the...
biotinidase deficiency Biotinidase deficiency Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency....
bladder cancer Bladder cancer Bladder cancer is any of several types of malignant growths of the urinary bladder. It is a disease in which abnormal cells multiply without control in the bladder. The bladder is a hollow, muscular organ that stores urine; it is located in the pelvis...
Bleeding disorders see factor V Leiden thrombophilia
Bloch-Sulzberger syndrome see incontinentia pigmenti Incontinentia pigmenti Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system...
Bloom syndrome Bloom syndrome Bloom's syndrome , also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr...		15q26.1
Bone diseases
Bone marrow diseases see X-linked sideroblastic anemia
Bonnevie-Ullrich syndrome see Turner syndrome Turner syndrome Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
Bourneville disease see tuberous sclerosis Tuberous sclerosis Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
Bourneville phakomatosis see tuberous sclerosis Tuberous sclerosis Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
Brain diseases see prion disease
breast cancer Breast cancer Breast cancer is cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas...
Birt–Hogg–Dubé syndrome		17
Brittle bone disease see osteogenesis imperfecta Osteogenesis imperfecta Osteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
Broad Thumb-Hallux syndrome see Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome Rubinstein-Taybi Syndrome , also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected...
Bronze Diabetes see hemochromatosis
Bronzed cirrhosis see hemochromatosis
Bulbospinal muscular atrophy, X-linked see Kennedy's disease
Burger-Grutz syndrome see lipoprotein lipase deficiency, familial
CADASIL syndrome	P	3
CGD Chronic granulomatous disorder
Campomelic dysplasia	C	17q24.3-q25.1
Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
Cancer Cancer Cancer , known medically as a malignant neoplasm, is a large group of different diseases, all involving unregulated cell growth. In cancer, cells divide and grow uncontrollably, forming malignant tumors, and invade nearby parts of the body. The cancer may also spread to more distant parts of the...
Cancer Family syndrome see hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer Lynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin...
Cancer of breast see breast cancer Breast cancer Breast cancer is cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas...
Cancer of the bladder see bladder cancer Bladder cancer Bladder cancer is any of several types of malignant growths of the urinary bladder. It is a disease in which abnormal cells multiply without control in the bladder. The bladder is a hollow, muscular organ that stores urine; it is located in the pelvis...
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency Biotinidase deficiency Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency....	P	3
Cardiomyopathy see Noonan syndrome Noonan syndrome Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
Cat cry syndrome see Cri du chat Cri du chat Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by...
CAVD see congenital absence of the vas deferens Congenital absence of the vas deferens Congenital absence of the vas deferens is a condition in which the vasa deferentia, male reproductive organs, fail to form properly prior to birth. It may either be unilateral or bilateral .-Presentation:...
Caylor cardiofacial syndrome see 22q11.2 deletion syndrome	D	22q
CBAVD see congenital absence of the vas deferens Congenital absence of the vas deferens Congenital absence of the vas deferens is a condition in which the vasa deferentia, male reproductive organs, fail to form properly prior to birth. It may either be unilateral or bilateral .-Presentation:...
Celiac Disease Coeliac disease Coeliac disease , is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward...
CEP see congenital erythropoietic porphyria
Ceramide trihexosidase deficiency see Fabry disease		X
Cerebelloretinal Angiomatosis, familial see von Hippel-Lindau disease Von Hippel-Lindau disease Von Hippel–Lindau is a rare, autosomal dominant genetic condition in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma and pheochromocytoma...	P	3 (p26-p25)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see CADASIL syndrome	P	3
Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy see CADASIL syndrome	P	3
Cerebral sclerosis see tuberous sclerosis Tuberous sclerosis Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...		9 (q34), 16 (p13.3)
Cerebroatrophic Hyperammonemia see Rett syndrome Rett syndrome Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...		X
Cerebroside Lipidosis syndrome see Gaucher disease	P	1(q21)
CF see cystic fibrosis Cystic fibrosis Cystic fibrosis is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine...	D (most common); or substitution	CFTR (7q31.2)
CH see congenital hypothyroidism Congenital hypothyroidism Congenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism...
Charcot disease see amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis , also referred to as Lou Gehrig's disease, is a form of motor neuron disease caused by the degeneration of upper and lower neurons, located in the ventral horn of the spinal cord and the cortical neurons that provide their efferent input...
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
Chondrodystrophia see achondroplasia Achondroplasia Achondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...
Chondrodystrophy syndrome see achondroplasia Achondroplasia Achondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...
Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features...
Chondrogenesis imperfecta see achondrogenesis, type II
Choreoathetosis self-mutilation hyperuricemia syndrome see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...	P	X
Classic Galactosemia see galactosemia Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...	P	9 (p13)
Classical Ehlers–Danlos syndrome see Ehlers–Danlos syndrome#classical type
Classical Phenylketonuria see phenylketonuria Phenylketonuria Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
Cleft lip and palate see Stickler syndrome Stickler syndrome Stickler syndrome is a group of genetic disorders affecting connective tissue, specifically collagen. It was first studied and characterized by Gunnar B. Stickler in 1965. Stickler syndrome is a subtype of collagenopathy, types II and XI...
Cloverleaf skull with thanatophoric dwarfism see Thanatophoric dysplasia#type 2
CLS see Coffin-Lowry syndrome Coffin-Lowry syndrome Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.-History:...
CMT see Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
Cockayne syndrome Cockayne syndrome Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
Coffin-Lowry syndrome Coffin-Lowry syndrome Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.-History:...
collagenopathy, types II and XI Collagenopathy, types II and XI The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex molecules that provide structure, strength, and elasticity ...
Colon Cancer, familial Nonpolyposis see hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer Lynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin...
Colon cancer, familial see familial adenomatous polyposis Familial adenomatous polyposis Familial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
Colorectal cancer Colorectal cancer Colorectal cancer, commonly known as bowel cancer, is a cancer caused by uncontrolled cell growth , in the colon, rectum, or vermiform appendix. Colorectal cancer is clinically distinct from anal cancer, which affects the anus....
Complete HPRT deficiency see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
Compression neuropathy see hereditary neuropathy with liability to pressure palsies
Congenital adrenal hyperplasia see 21-hydroxylase deficiency
congenital bilateral absence of vas deferens see Congenital absence of the vas deferens Congenital absence of the vas deferens Congenital absence of the vas deferens is a condition in which the vasa deferentia, male reproductive organs, fail to form properly prior to birth. It may either be unilateral or bilateral .-Presentation:...
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 hypothyroidism Congenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism...
Congenital methemoglobinemia see Methemoglobinemia#Congenital methaemoglobinaemia
Congenital osteosclerosis see achondroplasia Achondroplasia Achondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...
Congenital sideroblastic anaemia see X-linked sideroblastic anemia		X
Connective tissue disease Connective tissue disease A connective tissue disease is any disease that has the connective tissues of the body as a target of pathology. Connective tissue is any type of biological tissue with an extensive extracellular matrix that supports, binds together, and protects organs...
Conotruncal anomaly face syndrome see 22q11.2 deletion syndrome	D	22q
Cooley's Anemia see beta-thalassemia Beta-thalassemia Beta-thalassemias are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated...
Copper storage disease see Wilson's disease Wilson's disease Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease...		13 (q14.3)
Copper transport disease see Menkes disease Menkes disease Menkes disease , also called Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder that affects copper levels in the body, leading to copper deficiency...
Coproporphyria, hereditary see hereditary coproporphyria Hereditary coproporphyria Hereditary coproporphyria is a type of acute porphyria that is associated with a deficiency of the enzyme coproporphyrinogen III oxidase....
Coproporphyrinogen oxidase deficiency see hereditary coproporphyria Hereditary coproporphyria Hereditary coproporphyria is a type of acute porphyria that is associated with a deficiency of the enzyme coproporphyrinogen III oxidase....
Cowden syndrome Cowden syndrome Cowden syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer....
CPO deficiency see hereditary coproporphyria Hereditary coproporphyria Hereditary coproporphyria is a type of acute porphyria that is associated with a deficiency of the enzyme coproporphyrinogen III oxidase....
CPRO deficiency see hereditary coproporphyria Hereditary coproporphyria Hereditary coproporphyria is a type of acute porphyria that is associated with a deficiency of the enzyme coproporphyrinogen III oxidase....
CPX deficiency see hereditary coproporphyria Hereditary coproporphyria Hereditary coproporphyria is a type of acute porphyria that is associated with a deficiency of the enzyme coproporphyrinogen III oxidase....
Craniofacial dysarthrosis see Crouzon syndrome Crouzon syndrome Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible...
Craniofacial Dysostosis see Crouzon syndrome Crouzon syndrome Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible...
Cretinism see congenital hypothyroidism Congenital hypothyroidism Congenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism...
Creutzfeldt-Jakob disease see prion disease
Cri du chat Cri du chat Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by...	D	5p
Crohn's disease Crohn's disease Crohn's disease, also known as regional enteritis, is a type of inflammatory bowel disease that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms... , fibrostenosing	P	16q12
Crouzon syndrome Crouzon syndrome Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible...		FGFR2 (10q25.3-q26)
Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull during development and a skin condition called acanthosis nigricans....
Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull during development and a skin condition called acanthosis nigricans....
CS see Cockayne syndrome Cockayne syndrome Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging... see Cowden syndrome Cowden syndrome Cowden syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer....
Curschmann-Batten-Steinert syndrome see myotonic dystrophy Myotonic dystrophy Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome
D-glycerate dehydrogenase deficiency see hyperoxaluria, primary Primary hyperoxaluria Primary hyperoxaluria results in increased excretion of oxalate, with oxalate stones being common. The oxalalate in these common conditions is derived from dietary sources or is secondary to malabsorption...
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
DAT - Dementia Alzheimer's type see Alzheimer's disease Alzheimer's disease Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
Genetic hypercalciuria see Dent's disease Dent's disease Dent's disease is a rare X-linked recessive inherited condition that affects the proximal renal tubules of the kidney. It is one cause of Fanconi syndrome, and is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic renal failure."Dent's...		Xp11.22
DBMD see muscular dystrophy, Duchenne and Becker types Muscular dystrophy Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.In the 1860s, descriptions of boys who...
Deafness with goiter see Pendred syndrome Pendred syndrome Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism . There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of...
Deafness-retinitis pigmentosa syndrome see Usher syndrome Usher syndrome Usher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
Deficiency disease, Phenylalanine Hydroxylase see phenylketonuria Phenylketonuria Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...	P	12q
Degenerative nerve diseases
de Grouchy syndrome 1 see De Grouchy syndrome	D	18p
Dejerine-Sottas syndrome see Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
Delta-aminolevulinate dehydratase deficiency porphyria see ALA dehydratase deficiency
Dementia see CADASIL syndrome
demyelinogenic leukodystrophy see Alexander disease Alexander disease Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
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 Androgen insensitivity syndrome Androgen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as...		X
Diffuse Globoid Body Sclerosis see Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
Di George's syndrome	D	22q
Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome Androgen insensitivity syndrome Androgen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as...		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 Down syndrome Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...		21
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 type
Dwarf, achondroplastic see achondroplasia Achondroplasia Achondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...		3
Dwarf, thanatophoric see thanatophoric dysplasia Thanatophoric dysplasia Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs.-Symptoms:Infants with this condition have disproportionately short arms and legs with extra folds of skin...
Dwarfism Dwarfism Dwarfism is short stature resulting from a medical condition. It is sometimes defined as an adult height of less than 4 feet 10 inches , although this definition is problematic because short stature in itself is not a disorder....
Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome Cockayne syndrome Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
dysmyelinogenic leukodystrophy see Alexander disease Alexander disease Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
Dystrophia myotonica see myotonic dystrophy Myotonic dystrophy Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...	T	19
dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome Usher syndrome Usher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
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 Osteogenesis imperfecta Osteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
Entrapment neuropathy see hereditary neuropathy with liability to pressure palsies
Epiloia see tuberous sclerosis Tuberous sclerosis Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
EPP see erythropoietic protoporphyria Erythropoietic protoporphyria Erythropoietic protoporphyria is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue...
Erythroblastic anemia see beta-thalassemia Beta-thalassemia Beta-thalassemias are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated...
Erythrohepatic protoporphyria see erythropoietic protoporphyria Erythropoietic protoporphyria Erythropoietic protoporphyria is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue...
Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anemia
Erythropoietic porphyria see congenital erythropoietic porphyria
erythropoietic protoporphyria Erythropoietic protoporphyria Erythropoietic protoporphyria is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue...
Erythropoietic uroporphyria see congenital erythropoietic porphyria
Eye cancer see retinoblastoma FA - Friedreich ataxia see Friedreich's ataxia Friedreich's ataxia Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems; it can also lead to heart disease and diabetes....
FA see fanconi anemia Fanconi anemia Fanconi anemia is a genetic disease with an incidence of 1 per 350,000 births, with a higher frequency in Ashkenazi Jews and Afrikaners in South Africa.FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair...
Fabry disease	P	Xq22.1
Facial injuries and disorders
factor V Leiden thrombophilia
FALS see amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis , also referred to as Lou Gehrig's disease, is a form of motor neuron disease caused by the degeneration of upper and lower neurons, located in the ventral horn of the spinal cord and the cortical neurons that provide their efferent input...
familial acoustic neuroma see neurofibromatosis type II Neurofibromatosis type II Neurofibromatosis Type II is an inherited disease. The main manifestation of the disease is the development of symmetric, non-malignant brain tumours in the region of the cranial nerve VIII, which is the auditory-vestibular nerve that transmits sensory information from the inner ear to the...
familial adenomatous polyposis Familial adenomatous polyposis Familial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
familial Alzheimer disease (FAD) see Alzheimer's disease Alzheimer's disease Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
familial amyotrophic lateral sclerosis see amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis , also referred to as Lou Gehrig's disease, is a form of motor neuron disease caused by the degeneration of upper and lower neurons, located in the ventral horn of the spinal cord and the cortical neurons that provide their efferent input...
familial dysautonomia Familial dysautonomia Familial dysautonomia 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...
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 Hereditary nonpolyposis colorectal cancer Lynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin...
familial paroxysmal polyserositis see Mediterranean fever, familial
familial PCT see porphyria cutanea tarda Porphyria cutanea tarda Porphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
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 Noonan syndrome Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
familial vascular leukoencephalopathy see CADASIL syndrome
FAP see familial adenomatous polyposis Familial adenomatous polyposis Familial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
FD see familial dysautonomia Familial dysautonomia Familial dysautonomia 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...
Female pseudo-Turner syndrome see Noonan syndrome Noonan syndrome Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
Ferrochelatase deficiency see erythropoietic protoporphyria Erythropoietic protoporphyria Erythropoietic protoporphyria is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue...
ferroportin disease see Haemochromatosis#type 4
Fever see Mediterranean fever, familial
FG syndrome FG syndrome FG syndrome is a rare genetic syndrome linked to the X chromosome and causing physical anomalies and developmental delays...
FGFR3-associated coronal synostosis see Muenke syndrome Muenke syndrome Muenke Syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. Muenke syndrome occurs in about 1 in 30,000 newborns...
Fibrinoid degeneration of astrocytes see Alexander disease Alexander disease Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
Fibrocystic disease of the pancreas see cystic fibrosis Cystic fibrosis Cystic fibrosis is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine...
FMF see Mediterranean fever, familial
Folling disease see phenylketonuria Phenylketonuria Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
fra(X) syndrome see fragile X syndrome Fragile X syndrome Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...		Xq27.3
fragile X syndrome Fragile X syndrome Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...		Xq27.3
Fragilitas ossium see osteogenesis imperfecta Osteogenesis imperfecta Osteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
FRAXA syndrome see fragile X syndrome Fragile X syndrome Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...		Xq27.3
FRDA see Friedreich's ataxia Friedreich's ataxia Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems; it can also lead to heart disease and diabetes....
Friedreich's ataxia Friedreich's ataxia Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems; it can also lead to heart disease and diabetes.... see Friedreich's ataxia Friedreich's ataxia Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems; it can also lead to heart disease and diabetes....
Friedreich's ataxia Friedreich's ataxia Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems; it can also lead to heart disease and diabetes....
FXS see fragile X syndrome Fragile X syndrome Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...		Xq27.3
G6PD deficiency
Galactokinase deficiency disease see galactosemia Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
Galactose-1-phosphate uridyl-transferase deficiency disease see galactosemia Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
galactosemia Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
Galactosylceramidase deficiency disease see Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
Galactosylceramide lipidosis see Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
galactosylcerebrosidase deficiency see Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
galactosylsphingosine lipidosis see Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
GALC deficiency see Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
GALT deficiency see galactosemia Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
Gaucher disease
Gaucher-like disease see pseudo-Gaucher disease
GBA deficiency see Gaucher disease type 1
GD see Gaucher's disease Gaucher's disease Gaucher's disease is a genetic disease in which a fatty substance accumulates in cells and certain organs.Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid...
Genetic brain disorders
genetic emphysema see alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin , leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells...
genetic hemochromatosis see hemochromatosis
Giant cell hepatitis, neonatal see Neonatal hemochromatosis Neonatal hemochromatosis Neonatal Hemochromatosis is a rare and severe liver disease. Its characteristics are similar to hereditary hemochromatosis, where iron deposition causes damage to the liver and other organs and tissues.-Causes:...
GLA deficiency see Fabry disease
Glioblastoma, retinal see retinoblastoma Retinoblastoma Retinoblastoma is a rapidly developing cancer that develops in the cells of retina, the light-detecting tissue of the eye. In the developed world, Rb has one of the best cure rates of all childhood cancers , with more than nine out of every ten sufferers surviving into...
Glioma, retinal see retinoblastoma Retinoblastoma Retinoblastoma is a rapidly developing cancer that develops in the cells of retina, the light-detecting tissue of the eye. In the developed world, Rb has one of the best cure rates of all childhood cancers , with more than nine out of every ten sufferers surviving into...
globoid cell leukodystrophy (GCL, GLD) see Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
globoid cell leukoencephalopathy see Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
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 Tay-Sachs disease Tay–Sachs disease is an autosomal recessive genetic disorder...
Goiter-deafness syndrome see Pendred syndrome Pendred syndrome Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism . There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of...
Graefe-Usher syndrome see Usher syndrome Usher syndrome Usher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
Gronblad-Strandberg syndrome see pseudoxanthoma elasticum Pseudoxanthoma elasticum Pseudoxanthoma elasticum , also known as Grönblad–Strandberg syndrome, is a genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis...
Guenther porphyria see congenital erythropoietic porphyria
Gunther disease see congenital erythropoietic porphyria
Haemochromatosis see hemochromatosis
Hallgren syndrome see Usher syndrome Usher syndrome Usher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
Harlequin type ichthyosis Harlequin type ichthyosis Harlequin-type ichthyosis , a skin disease, is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin...
Hb S disease see sickle cell anemia
HCH see hypochondroplasia Hypochondroplasia Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body...
HCP see hereditary coproporphyria Hereditary coproporphyria Hereditary coproporphyria is a type of acute porphyria that is associated with a deficiency of the enzyme coproporphyrinogen III oxidase....
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 Porphyria Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway . They are broadly classified as acute porphyrias and cutaneous porphyrias, based on the site of the overproduction and accumulation of the porphyrins...
Heme synthetase deficiency see erythropoietic protoporphyria Erythropoietic protoporphyria Erythropoietic protoporphyria is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue...
Hemochromatoses see hemochromatosis
hemochromatosis
hemoglobin M disease see methemoglobinemia#beta-globin type
Hemoglobin S disease see sickle cell anemia
hemophilia
HEP see hepatoerythropoietic porphyria Hepatoerythropoietic porphyria Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase .It has a similar presentation to porphyria cutanea tarda , but with earlier onset...
hepatic AGT deficiency see hyperoxaluria, primary
hepatoerythropoietic porphyria Hepatoerythropoietic porphyria Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase .It has a similar presentation to porphyria cutanea tarda , but with earlier onset...
Hepatolenticular degeneration syndrome see Wilson disease
Hereditary arthro-ophthalmopathy see Stickler syndrome Stickler syndrome Stickler syndrome is a group of genetic disorders affecting connective tissue, specifically collagen. It was first studied and characterized by Gunnar B. Stickler in 1965. Stickler syndrome is a subtype of collagenopathy, types II and XI...
Hereditary coproporphyria Hereditary coproporphyria Hereditary coproporphyria is a type of acute porphyria that is associated with a deficiency of the enzyme coproporphyrinogen III oxidase....	P	3q12
Hereditary dystopic lipidosis see Fabry disease
Hereditary hemochromatosis (HHC) see hemochromatosis
Hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia , also known as Osler-Weber-Rendu disease and Osler-Weber-Rendu syndrome, is a genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver and brain.It may lead to nosebleeds, acute... (HHT)
Hereditary Inclusion Body Myopathy see skeletal muscle regeneration
Hereditary iron-loading anemia see X-linked sideroblastic anemia
Hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
Hereditary motor neuronopathy see spinal muscular atrophy Spinal muscular atrophy Spinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
Hereditary motor neuronopathy, type V see distal spinal muscular atrophy, type V
Hereditary multiple exostoses Hereditary multiple exostoses Hereditary multiple exostoses is a rare medical condition in which multiple bony spurs or lumps develop on the bones of a child...
Hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer Lynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin...	DNA mismatch repair dysfunction usually in MSH2 MSH2 MSH2 is a gene commonly associated with Hereditary nonpolyposis colorectal cancer.-Interactions:MSH2 has been shown to interact with Exonuclease 1, MSH3, MSH6, CHEK2, MAX, Ataxia telangiectasia and Rad3 related and BRCA1.-Further reading:... and MLH1 genes	usually chromosomes 2 and 3
Hereditary periodic fever syndrome see Mediterranean fever, familial
Hereditary Polyposis Coli see familial adenomatous polyposis Familial adenomatous polyposis Familial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
Hereditary pulmonary emphysema see alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin , leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells...
Hereditary resistance to activated protein C see factor V Leiden thrombophilia
Hereditary sensory and autonomic neuropathy type III see familial dysautonomia Familial dysautonomia Familial dysautonomia 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...
Hereditary spastic paraplegia see infantile-onset ascending hereditary spastic paralysis
Hereditary spinal ataxia see Friedreich's ataxia Friedreich's ataxia Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems; it can also lead to heart disease and diabetes....
Hereditary spinal sclerosis see Friedreich's ataxia Friedreich's ataxia Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems; it can also lead to heart disease and diabetes....
Herrick's anemia see sickle cell anemia
Heterozygous OSMED see Weissenbacher-Zweymüller syndrome Weissenbacher-Zweymüller syndrome Weissenbacher–Zweymuller syndrome , also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations in the COL11A2 gene , which codes for the α2 strand of collagen type XI...
Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome Weissenbacher-Zweymüller syndrome Weissenbacher–Zweymuller syndrome , also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations in the COL11A2 gene , which codes for the α2 strand of collagen type XI...
HexA deficiency see Tay-Sachs disease Tay-Sachs disease Tay–Sachs disease is an autosomal recessive genetic disorder...
Hexosaminidase A deficiency see Tay-Sachs disease Tay-Sachs disease Tay–Sachs disease is an autosomal recessive genetic disorder...
Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease Tay-Sachs disease Tay–Sachs disease is an autosomal recessive genetic disorder...
HFE-associated hemochromatosis see hemochromatosis
HGPS see Progeria Progeria Progeria is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" , meaning "before", and "géras" , meaning "old age"...
Hippel-Lindau disease see von Hippel-Lindau disease Von Hippel-Lindau disease Von Hippel–Lindau is a rare, autosomal dominant genetic condition in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma and pheochromocytoma...
HLAH see hemochromatosis
HMN V see distal spinal muscular atrophy, type V
HMSN see Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
HNPCC see hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer Lynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin...
HNPP see hereditary neuropathy with liability to pressure palsies
homocystinuria Homocystinuria Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase...
Homogentisic acid oxidase deficiency see alkaptonuria Alkaptonuria Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
Homogentisic acidura see alkaptonuria Alkaptonuria Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria Hepatoerythropoietic porphyria Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase .It has a similar presentation to porphyria cutanea tarda , but with earlier onset...
HP1 see hyperoxaluria, primary
HP2 see hyperoxaluria, primary
HPA see hyperphenylalaninemia
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
HSAN type III see familial dysautonomia Familial dysautonomia Familial dysautonomia 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...
HSAN3 see familial dysautonomia Familial dysautonomia Familial dysautonomia 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...
HSN-III see familial dysautonomia Familial dysautonomia Familial dysautonomia 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...
Human dermatosparaxis see Ehlers–Danlos syndrome#dermatosparaxis type
Huntington's disease Huntington's disease Huntington's disease, chorea, or disorder , is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea...	T	4p16.3
Hutchinson-Gilford progeria syndrome see progeria Progeria Progeria is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" , meaning "before", and "géras" , meaning "old age"...
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 Propionic acidemia Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia....
Hyperlipoproteinemia type I see lipoprotein lipase deficiency, familial
hyperoxaluria, primary
hyperphenylalaninaemia see hyperphenylalaninemia
hyperphenylalaninemia
Hypochondrodysplasia see hypochondroplasia Hypochondroplasia Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body...
Hypochondrogenesis Hypochondrogenesis Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis....
Hypochondroplasia Hypochondroplasia Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body...		4p16.3
Hypochromic anemia see X-linked sideroblastic anemia
Hypocupremia, congenital see Menkes disease Menkes disease Menkes disease , also called Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder that affects copper levels in the body, leading to copper deficiency...
Hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
IAHSP see infantile-onset ascending hereditary spastic paralysis
ICF syndrome see Immunodeficiency, centromere instability and facial anomalies syndrome Immunodeficiency, centromere instability and facial anomalies syndrome ICF syndrome is a very rare autosomal recessive immune disorder.-Characteristics:...		20q11.2
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 Incontinentia pigmenti Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system...	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 Infertility Infertility primarily refers to the biological inability of a person to contribute to conception. Infertility may also refer to the state of a woman who is unable to carry a pregnancy to full term...
inherited emphysema see alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin , leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells...
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 Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features...
Intermittent acute porphyria syndrome see acute intermittent porphyria Acute intermittent porphyria Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
Intestinal polyposis-cutaneous pigmentation syndrome see Peutz–Jeghers syndrome
IP see incontinentia pigmenti Incontinentia pigmenti Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system...
Iron storage disorder see hemochromatosis
Isodicentric 15 see isodicentric 15 Isodicentric 15 Isodicentric 15, also called idic, partial tetrasomy 15q, or inverted duplication 15 , is a chromosome abnormality in which a child is born with extra genetic material from chromosome 15. People with idic are typically born with 47 chromosomes in their body cells, instead of the normal 46...	Inv dup	15q11-14
Isolated deafness see nonsyndromic deafness Nonsyndromic deafness Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
Jackson-Weiss syndrome Jackson-Weiss syndrome Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull , which prevents further growth of the skull and affects the shape of the head and face...
JH see Haemochromatosis#type 2
Joubert syndrome Joubert syndrome Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.-Diagnosis:...
JPLS see Juvenile Primary Lateral Sclerosis Juvenile primary lateral sclerosis Juvenile primary lateral sclerosis , also known as primary lateral sclerois , 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...		ALS2 ALS2 Alsin is a protein that in humans is encoded by the ALS2 gene. ALS2 orthologs have been identified in all mammals for which complete genome data are available.-External Links:** *...
juvenile amyotrophic lateral sclerosis see Amyotrophic lateral sclerosis#type 2
Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
JWS see Jackson-Weiss syndrome Jackson-Weiss syndrome Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull , which prevents further growth of the skull and affects the shape of the head and face...
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 Propionic acidemia Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia....
ketotic hyperglycinemia see propionic acidemia Propionic acidemia Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia....
Kidney diseases see hyperoxaluria, primary
Klinefelter's syndrome Klinefelter's syndrome Klinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome...
Klinefelter's syndrome see Klinefelter's syndrome Klinefelter's syndrome Klinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome...
Kniest dysplasia Kniest dysplasia Kniest dysplasia is an uncommon inherited disorder of bone growth. The condition is characterized by dwarfism, enlarged joints, and other skeletal abnormalities, and problems with vision and hearing...
Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
Lacunar dementia see CADASIL syndrome
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 Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
Learning Disorders see Learning disability Learning disability Learning disability is a classification including several disorders in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors...
Lentiginosis, perioral see Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa...
Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
Leukodystrophies
leukodystrophy with Rosenthal fibers see Alexander disease Alexander disease Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
Leukodystrophy, spongiform see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
LFS see Li-Fraumeni syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome. Li-Fraumeni syndrome greatly increases susceptibility to cancer...
Li-Fraumeni syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome. Li-Fraumeni syndrome greatly increases susceptibility to cancer...
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 Tay-Sachs disease Tay–Sachs disease is an autosomal recessive genetic disorder...
Lipoid histiocytosis (kerasin type) see Gaucher disease
lipoprotein lipase deficiency, familial
Liver diseases see galactosemia Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
Lou Gehrig disease see amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis , also referred to as Lou Gehrig's disease, is a form of motor neuron disease caused by the degeneration of upper and lower neurons, located in the ventral horn of the spinal cord and the cortical neurons that provide their efferent input...
Louis-Bar syndrome see ataxia telangiectasia Ataxia telangiectasia Ataxia telangiectasia is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease...
Lynch syndrome see hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer Lynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin...
Lysyl-hydroxylase deficiency see Ehlers–Danlos syndrome#kyphoscoliosis type
Machado-Joseph disease see Spinocerebellar ataxia#type 3
Male breast cancer see breast cancer Breast cancer Breast cancer is cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas...
Male genital disorders
Male Turner syndrome see Noonan syndrome Noonan syndrome Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
Malignant neoplasm of breast see breast cancer Breast cancer Breast cancer is cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas...
malignant tumor of breast see breast cancer Breast cancer Breast cancer is cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas...
Malignant tumor of urinary bladder see bladder cancer Bladder cancer Bladder cancer is any of several types of malignant growths of the urinary bladder. It is a disease in which abnormal cells multiply without control in the bladder. The bladder is a hollow, muscular organ that stores urine; it is located in the pelvis...
Mammary cancer see breast cancer Breast cancer Breast cancer is cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas...
Marfan syndrome Marfan syndrome Marfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers....		15
Marker X syndrome see fragile X syndrome Fragile X syndrome Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
Martin-Bell syndrome see fragile X syndrome Fragile X syndrome Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
McCune–Albright syndrome		20 q13.2-13.3
McLeod syndrome McLeod syndrome McLeod syndrome is a genetic disorder that may affect the blood, brain, peripheral nerves, muscle and heart. It is caused by a variety of recessively-inherited mutations in the XK gene on the X chromosome...		X
MEDNIK	D	AP1S1 AP1S1 AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.A mutation in the AP1S1 causes the rare familial MEDNIK syndrome described in 2008.-Interactions:AP1S1 has been shown to interact with AP1G1 and RAB10....
Mediterranean Anemia see beta-thalassemia Beta-thalassemia Beta-thalassemias are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated...
Mediterranean fever, familial
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features...
Menkea syndrome see Menkes disease Menkes disease Menkes disease , also called Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder that affects copper levels in the body, leading to copper deficiency...
Menkes disease Menkes disease Menkes disease , also called Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder that affects copper levels in the body, leading to copper deficiency...
Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome Coffin-Lowry syndrome Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.-History:...
Metabolic disorders
Metatropic dwarfism, type II see Kniest dysplasia Kniest dysplasia Kniest dysplasia is an uncommon inherited disorder of bone growth. The condition is characterized by dwarfism, enlarged joints, and other skeletal abnormalities, and problems with vision and hearing...
Metatropic dysplasia type II see Kniest dysplasia Kniest dysplasia Kniest dysplasia is an uncommon inherited disorder of bone growth. The condition is characterized by dwarfism, enlarged joints, and other skeletal abnormalities, and problems with vision and hearing...
Methemoglobinemia#beta-globin type
methylmalonic acidemia Methylmalonic acidemia Methylmalonic acidemia , also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia....
MFS see Marfan syndrome Marfan syndrome Marfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers....
MHAM see Cowden syndrome Cowden syndrome Cowden syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer....
MK see Menkes disease Menkes disease Menkes disease , also called Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder that affects copper levels in the body, leading to copper deficiency...
Micro syndrome Micro syndrome Micro Syndrome also known as WARBM, and Warburg Sjo Fledelius Syndrome, is a rare autosomal recessive genetic disorder characterized by microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism.-Genetics:...		2q21.3
Microcephaly Microcephaly Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...	P	1q31 (ASPM)
MMA see methylmalonic acidemia Methylmalonic acidemia Methylmalonic acidemia , also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia....
MNK see Menkes disease Menkes disease Menkes disease , also called Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder that affects copper levels in the body, leading to copper deficiency...
Monosomy 1p36 syndrome see 1p36 deletion syndrome 1p36 deletion syndrome 1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features...	D	1p36
monosomy X see Turner syndrome Turner syndrome Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
Motor neuron disease, amyotrophic lateral sclerosis see amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis , also referred to as Lou Gehrig's disease, is a form of motor neuron disease caused by the degeneration of upper and lower neurons, located in the ventral horn of the spinal cord and the cortical neurons that provide their efferent input...
Movement disorder Movement disorder Movement disorders include:* Akathisia * Akinesia * Associated Movements * Athetosis... s
Mowat-Wilson syndrome Mowat-Wilson Syndrome Mowat Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. D. R. Mowat and Dr. M. J. Wilson in 1998.-Presentation:...
Mucopolysaccharidosis Mucopolysaccharidosis Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and... (MPS I)
Mucoviscidosis see cystic fibrosis Cystic fibrosis Cystic fibrosis is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine...
Muenke syndrome Muenke syndrome Muenke Syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. Muenke syndrome occurs in about 1 in 30,000 newborns...
Multi-Infarct dementia see CADASIL syndrome
Multiple carboxylase deficiency, late-onset see biotinidase deficiency Biotinidase deficiency Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency....
Multiple hamartoma syndrome see Cowden syndrome Cowden syndrome Cowden syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer....
Multiple neurofibromatosis see neurofibromatosis Neurofibromatosis Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors that may be benign or may cause serious damage by compressing nerves and other tissues...
Muscular dystrophy Muscular dystrophy Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.In the 1860s, descriptions of boys who...
Muscular dystrophy, Duchenne and Becker type
Myotonia atrophica see myotonic dystrophy Myotonic dystrophy Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
Myotonia dystrophica see myotonic dystrophy Myotonic dystrophy Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
myotonic dystrophy Myotonic dystrophy Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
Myxedema, congenital see congenital hypothyroidism Congenital hypothyroidism Congenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism...
Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features...
Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features...
NBIA1 see pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration , also known as neurodegeneration with brain iron accumulation 1 and formerly called Hallervorden-Spatz syndrome Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1) and...
Neill-Dingwall syndrome see Cockayne syndrome Cockayne syndrome Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
Neuroblastoma, retinal see retinoblastoma Retinoblastoma Retinoblastoma is a rapidly developing cancer that develops in the cells of retina, the light-detecting tissue of the eye. In the developed world, Rb has one of the best cure rates of all childhood cancers , with more than nine out of every ten sufferers surviving into...
Neurodegeneration with brain iron accumulation type 1 see pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration , also known as neurodegeneration with brain iron accumulation 1 and formerly called Hallervorden-Spatz syndrome Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1) and...
Neurofibromatosis type I Neurofibromatosis type I Neurofibromatosis type I , formerly known as von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder. It is possibly the most common inherited disorder caused by a single gene...		17q11.2
Neurofibromatosis type II Neurofibromatosis type II Neurofibromatosis Type II is an inherited disease. The main manifestation of the disease is the development of symmetric, non-malignant brain tumours in the region of the cranial nerve VIII, which is the auditory-vestibular nerve that transmits sensory information from the inner ear to the...
Neurologic diseases
Neuromuscular disorders Neuromuscular Disorders Neuromuscular Disorders is a peer-reviewed medical journal that focuses on neuromuscular disease, including muscular dystrophy, spinal muscular atrophy, and myasthenia. It is the official journal of the World Muscle Society. It was established in 1991 and is published by Elsevier....
neuronopathy, distal hereditary motor, type V see Distal spinal muscular atrophy#type V
neuronopathy, distal hereditary motor, with pyramidal features see Amyotrophic lateral sclerosis#type 4
Niemann-Pick see Niemann–Pick disease	NPA, NPB, NPC1 NPC1 Niemann-Pick disease, type C1 also known as NPC1 is a protein which in humans is encoded by the NPC1 gene.NPC1 was identified as the gene that when mutated, results in Niemann-Pick disease, type C... , NPC2 NPC2 NPC2 is a protein associated with Niemann-Pick disease, type C.... , Sphingomyelin phosphodiesterase 1 Sphingomyelin phosphodiesterase 1 Sphingomyelin phosphodiesterase 1 also known as acid sphingomyelinase is an enzyme that in humans is encoded by the SMPD1 gene.Sphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase family. Defects in SMPD1 gene cause Niemann-Pick disease, SMPD1-associated.-External...	SMPD1
Noack syndrome see Pfeiffer syndrome Pfeiffer syndrome Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull , which prevents further growth of the skull and affects the shape of the head and face...
Nonketotic hyperglycinemia see Glycine encephalopathy Glycine encephalopathy Glycine encephalopathy is a rare autosomal recessive disorder of glycine metabolism. After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism. The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine...
Non-neuronopathic Gaucher disease see Gaucher disease type 1
Non-phenylketonuric hyperphenylalaninemia see tetrahydrobiopterin deficiency Tetrahydrobiopterin deficiency Tetrahydrobiopterin deficiency , also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners...
nonsyndromic deafness Nonsyndromic deafness Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
Noonan syndrome Noonan syndrome Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
Norrbottnian Gaucher disease see Gaucher disease type 3
Ochronosis see alkaptonuria Alkaptonuria Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
Ochronotic arthritis see alkaptonuria Alkaptonuria Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
OI see osteogenesis imperfecta Osteogenesis imperfecta Osteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
Osler-Weber-Rendu disease see Hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia , also known as Osler-Weber-Rendu disease and Osler-Weber-Rendu syndrome, is a genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver and brain.It may lead to nosebleeds, acute...
OSMED see otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features...
osteogenesis imperfecta Osteogenesis imperfecta Osteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
Osteopsathyrosis see osteogenesis imperfecta Osteogenesis imperfecta Osteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
Osteosclerosis congenita see achondroplasia Achondroplasia Achondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...
Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features...
otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features...
Oxalosis see hyperoxaluria, primary
Oxaluria, primary see hyperoxaluria, primary
pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration , also known as neurodegeneration with brain iron accumulation 1 and formerly called Hallervorden-Spatz syndrome Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1) and...
Patau Syndrome (Trisomy 13) Patau syndrome Patau syndrome, also known as trisomy 13 and trisomy D, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a nondisjunction of chromosomes during meiosis. Some are caused by Robertsonian translocations...
PBGD deficiency see acute intermittent porphyria Acute intermittent porphyria Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
PCC deficiency see propionic acidemia Propionic acidemia Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia....
PCT see porphyria cutanea tarda Porphyria cutanea tarda Porphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
PDM see Myotonic dystrophy#type 2
Pendred syndrome Pendred syndrome Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism . There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of...
Periodic disease see Mediterranean fever, familial
Periodic peritonitis see Mediterranean fever, familial
Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa...
Peripheral nerve disorders see familial dysautonomia Familial dysautonomia Familial dysautonomia 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...
Peripheral neurofibromatosis see neurofibromatosis type I Neurofibromatosis type I Neurofibromatosis type I , formerly known as von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder. It is possibly the most common inherited disorder caused by a single gene...
Peroneal muscular atrophy see Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
peroxisomal alanine:glyoxylate aminotransferase deficiency see hyperoxaluria, primary
Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa...
Pfeiffer syndrome Pfeiffer syndrome Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull , which prevents further growth of the skull and affects the shape of the head and face...
Phenylalanine hydroxylase deficiency disease see phenylketonuria Phenylketonuria Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
phenylketonuria Phenylketonuria Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
Pheochromocytoma Pheochromocytoma A pheochromocytoma or phaeochromocytoma is a neuroendocrine tumor of the medulla of the adrenal glands , or extra-adrenal chromaffin tissue that failed to involute after birth and secretes excessive amounts of catecholamines, usually noradrenaline , and adrenaline to a lesser extent... see von Hippel-Lindau disease Von Hippel-Lindau disease Von Hippel–Lindau is a rare, autosomal dominant genetic condition in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma and pheochromocytoma...
Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome Weissenbacher-Zweymüller syndrome Weissenbacher–Zweymuller syndrome , also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations in the COL11A2 gene , which codes for the α2 strand of collagen type XI...
Pigmentary cirrhosis see hemochromatosis
PJS see Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa...
PKAN see pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration , also known as neurodegeneration with brain iron accumulation 1 and formerly called Hallervorden-Spatz syndrome Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1) and...
PKU see phenylketonuria Phenylketonuria Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
Plumboporphyria see ALA deficiency porphyria
PMA see Charcot-Marie-tooth disease Charcot-Marie-Tooth disease Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
Polycystic kidney disease Polycystic kidney disease Autosomal dominant polycystic kidney disease is an inherited systemic disorder that predominantly affects the kidneys, but may affect other organs including the liver, pancreas, brain, and arterial blood vessels...	P	16 (PKD1 PKD1 Polycystin-1 is a protein that in humans is encoded by the PKD1 gene.-Gene product:-Function:Polycystin-1 is a glycoprotein which contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail... ) or 4 (PKD2)
polyostotic fibrous dysplasia see McCune–Albright syndrome		20 q13.2-13.3
polyposis coli see familial adenomatous polyposis Familial adenomatous polyposis Familial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa...
polyposis, intestinal, II see Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa...
polyps-and-spots syndrome see Peutz-Jeghers syndrome Peutz-Jeghers syndrome Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa...
Porphobilinogen synthase deficiency see ALA deficiency porphyria
porphyria Porphyria Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway . They are broadly classified as acute porphyrias and cutaneous porphyrias, based on the site of the overproduction and accumulation of the porphyrins...
porphyrin disorder see porphyria Porphyria Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway . They are broadly classified as acute porphyrias and cutaneous porphyrias, based on the site of the overproduction and accumulation of the porphyrins...
PPH see primary pulmonary hypertension
PPOX deficiency see variegate porphyria Variegate porphyria Variegate porphyria is an autosomal dominant porphyria that can have acute symptoms along with symptoms that affect the skin...
Prader-Labhart-Willi syndrome see Prader-Willi syndrome Prader-Willi syndrome Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
Prader-Willi syndrome Prader-Willi syndrome Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
presenile and senile dementia see Alzheimer's disease Alzheimer's disease Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
primary hemochromatosis see hemochromatosis
primary hyperuricemia syndrome see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
primary pulmonary hypertension
primary senile degenerative dementia see Alzheimer's disease Alzheimer's disease Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
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 Cockayne syndrome Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
progeroid nanism see Cockayne syndrome Cockayne syndrome Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
progressive chorea, chronic hereditary (Huntington) see Huntington's disease Huntington's disease Huntington's disease, chorea, or disorder , is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea...
progressive muscular atrophy see spinal muscular atrophy Spinal muscular atrophy Spinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
progressively deforming osteogenesis imperfecta with normal sclerae see Osteogenesis imperfecta#Type III
PROMM see Myotonic dystrophy#type 2
propionic acidemia Propionic acidemia Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia....
propionyl-CoA carboxylase deficiency see propionic acidemia Propionic acidemia Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia....
protein C deficiency Protein C deficiency Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders known as thrombophilias. The prevalence of protein C deficiency has been estimated to about 0.2% to 0.5% of the general population...
protein S deficiency Protein S deficiency Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a vitamin K-dependent physiological anticoagulant, acts as a nonenzymatic cofactor to activated protein C in the proteolytic degradation of factor Va and factor VIIIa...
protoporphyria see erythropoietic protoporphyria Erythropoietic protoporphyria Erythropoietic protoporphyria is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue...
protoporphyrinogen oxidase deficiency see variegate porphyria Variegate porphyria Variegate porphyria is an autosomal dominant porphyria that can have acute symptoms along with symptoms that affect the skin...
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 Noonan syndrome Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
pseudoxanthoma elasticum Pseudoxanthoma elasticum Pseudoxanthoma elasticum , also known as Grönblad–Strandberg syndrome, is a genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis...
psychosine lipidosis see Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
pulmonary arterial hypertension see primary pulmonary hypertension
pulmonary hypertension see primary pulmonary hypertension
PWS see Prader-Willi syndrome Prader-Willi syndrome Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
PXE - pseudoxanthoma elasticum see pseudoxanthoma elasticum Pseudoxanthoma elasticum Pseudoxanthoma elasticum , also known as Grönblad–Strandberg syndrome, is a genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis...
Rb see retinoblastoma Retinoblastoma Retinoblastoma is a rapidly developing cancer that develops in the cells of retina, the light-detecting tissue of the eye. In the developed world, Rb has one of the best cure rates of all childhood cancers , with more than nine out of every ten sufferers surviving into...
Recklinghausen disease, nerve see neurofibromatosis type I Neurofibromatosis type I Neurofibromatosis type I , formerly known as von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder. It is possibly the most common inherited disorder caused by a single gene...
Recurrent polyserositis see Mediterranean fever, familial
Retinal disorders
Retinitis pigmentosa-deafness syndrome see Usher syndrome Usher syndrome Usher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
Retinoblastoma Retinoblastoma Retinoblastoma is a rapidly developing cancer that develops in the cells of retina, the light-detecting tissue of the eye. In the developed world, Rb has one of the best cure rates of all childhood cancers , with more than nine out of every ten sufferers surviving into...
Rett syndrome Rett syndrome Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...
RFALS type 3 see Amyotrophic lateral sclerosis#type 2
Ricker syndrome see Myotonic dystrophy#type 2
Riley-Day syndrome see familial dysautonomia Familial dysautonomia Familial dysautonomia 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...
Roussy-Levy syndrome see Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
RSTS see Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome Rubinstein-Taybi Syndrome , also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected...
RTS see Rett syndrome Rett syndrome Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into... see Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome Rubinstein-Taybi Syndrome , also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected...
RTT see Rett syndrome Rett syndrome Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...
Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome Rubinstein-Taybi Syndrome , also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected...
Sack-Barabas syndrome see Ehlers–Danlos syndrome, vascular type
SADDAN SADDAN SADDAN is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities....
sarcoma family syndrome of Li and Fraumeni see Li-Fraumeni syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome. Li-Fraumeni syndrome greatly increases susceptibility to cancer...
sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome. Li-Fraumeni syndrome greatly increases susceptibility to cancer...
SBLA syndrome see Li-Fraumeni syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome. Li-Fraumeni syndrome greatly increases susceptibility to cancer...
SBMA see X-linked spinal-bulbar muscle atrophy
SCD see sickle cell anemia
Schwannoma, acoustic, bilateral see neurofibromatosis type II Neurofibromatosis type II Neurofibromatosis Type II is an inherited disease. The main manifestation of the disease is the development of symmetric, non-malignant brain tumours in the region of the cranial nerve VIII, which is the auditory-vestibular nerve that transmits sensory information from the inner ear to the...
SCIDX1 see X-linked severe combined immunodeficiency
sclerosis tuberosa see tuberous sclerosis Tuberous sclerosis Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
SDAT see Alzheimer's disease Alzheimer's disease Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
SED congenita see spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing...
SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
SEDc see spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing...
SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
senile dementia see Alzheimer disease#type 2
severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN SADDAN SADDAN is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities....
Shprintzen syndrome see 22q11.2 deletion syndrome	D	22q
sickle cell anemia	D	18q
Siderius X-linked mental retardation syndrome caused by mutations in the PHF8 PHF8 PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene.- Function :PHF8 belongs to the family of ferrous iron and 2-oxoglutarate dependent oxygenases, and is active as a histone lysine demethylase with selectivity for the di-and monomethyl states.- Clinical significance... gene	PD	Xp11.22
skeleton-skin-brain syndrome see SADDAN SADDAN SADDAN is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities....
Skin pigmentation disorders
SMA see spinal muscular atrophy Spinal muscular atrophy Spinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome is an autosomal recessive metabolic and developmental congenital disorder that causes the inability to correctly produce or synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme.-Symptoms:The signs and symptoms of SLOS syndrome vary widely...
South-African genetic porphyria see variegate porphyria Variegate porphyria Variegate porphyria is an autosomal dominant porphyria that can have acute symptoms along with symptoms that affect the skin...
spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis
Speech and communication disorders
sphingolipidosis, Tay-Sachs see Tay-Sachs disease Tay-Sachs disease Tay–Sachs disease is an autosomal recessive genetic disorder...
spinal-bulbar muscular atrophy
spinal muscular atrophy Spinal muscular atrophy Spinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
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 Spinocerebellar ataxia Spinocerebellar ataxia is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right.-Classification:...
spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing...
spondyloepiphyseal dysplasia see collagenopathy, types II and XI Collagenopathy, types II and XI The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex molecules that provide structure, strength, and elasticity ...
spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
spondylometaphyseal dysplasia, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
spongy degeneration of central nervous system see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
spongy degeneration of the brain see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
spongy degeneration of white matter in infancy see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
sporadic primary pulmonary hypertension see primary pulmonary hypertension
SSB syndrome see SADDAN SADDAN SADDAN is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities....
steely hair syndrome see Menkes disease Menkes disease Menkes disease , also called Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder that affects copper levels in the body, leading to copper deficiency...
Steinert disease see myotonic dystrophy Myotonic dystrophy Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
Steinert myotonic dystrophy syndrome see myotonic dystrophy Myotonic dystrophy Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
Stickler syndrome Stickler syndrome Stickler syndrome is a group of genetic disorders affecting connective tissue, specifically collagen. It was first studied and characterized by Gunnar B. Stickler in 1965. Stickler syndrome is a subtype of collagenopathy, types II and XI...
stroke see CADASIL syndrome
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine and two regions near the ends of bones...
subacute neuronopathic Gaucher disease see Gaucher disease type 3
Swedish genetic porphyria see acute intermittent porphyria Acute intermittent porphyria Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
Swedish porphyria see acute intermittent porphyria Acute intermittent porphyria Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
Swiss cheese cartilage dysplasia see Kniest dysplasia Kniest dysplasia Kniest dysplasia is an uncommon inherited disorder of bone growth. The condition is characterized by dwarfism, enlarged joints, and other skeletal abnormalities, and problems with vision and hearing...
Tay-Sachs disease Tay-Sachs disease Tay–Sachs disease is an autosomal recessive genetic disorder...
TD - thanatophoric dwarfism see thanatophoric dysplasia Thanatophoric dysplasia Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs.-Symptoms:Infants with this condition have disproportionately short arms and legs with extra folds of skin...
TD with straight femurs and cloverleaf skull see thanatophoric dysplasia#Type 2
Telangiectasia, cerebello-oculocutaneous see ataxia telangiectasia Ataxia telangiectasia Ataxia telangiectasia is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease...
Testicular feminization syndrome see androgen insensitivity syndrome Androgen insensitivity syndrome Androgen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as...
tetrahydrobiopterin deficiency Tetrahydrobiopterin deficiency Tetrahydrobiopterin deficiency , also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners...
TFM - testicular feminization syndrome see androgen insensitivity syndrome Androgen insensitivity syndrome Androgen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as...
thalassemia intermedia see beta-thalassemia Beta-thalassemia Beta-thalassemias are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated...
Thalassemia Major see beta-thalassemia Beta-thalassemia Beta-thalassemias are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated...
thanatophoric dysplasia Thanatophoric dysplasia Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs.-Symptoms:Infants with this condition have disproportionately short arms and legs with extra folds of skin...
Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type see factor V Leiden thrombophilia
Thyroid disease Thyroid disease -Hyper- and hypofunction:Imbalance in production of thyroid hormones arises from dysfunction of the thyroid gland itself, the pituitary gland, which produces thyroid-stimulating hormone , or the hypothalamus, which regulates the pituitary gland via thyrotropin-releasing hormone . Concentrations of...
Tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies
Total HPRT deficiency see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
Transmissible dementias see prion disease
Transmissible spongiform encephalopathies see prion disease
Treacher Collins syndrome Treacher Collins syndrome Treacher Collins syndrome , also known as Treacher Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher Collins syndrome is found in about 1 in 10,000 births, ....		5q32-q33.1
Trias fragilitis ossium see osteogenesis imperfecta#Type I
triple X syndrome Triple X syndrome 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. The condition always produces females, with an XX pair of chromosomes, as well as an additional chromosome, resulting in the formation of XXX. A mosaic form...
Triplo X syndrome see triple X syndrome Triple X syndrome 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. The condition always produces females, with an XX pair of chromosomes, as well as an additional chromosome, resulting in the formation of XXX. A mosaic form...
Trisomy 21 see Down syndrome Down syndrome Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...
Trisomy X see triple X syndrome Triple X syndrome 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. The condition always produces females, with an XX pair of chromosomes, as well as an additional chromosome, resulting in the formation of XXX. A mosaic form...
Troisier-Hanot-Chauffard syndrome see hemochromatosis
TS see Turner syndrome Turner syndrome Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
TSD see Tay-Sachs disease Tay-Sachs disease Tay–Sachs disease is an autosomal recessive genetic disorder...
TSEs see prion disease
tuberose sclerosis see tuberous sclerosis Tuberous sclerosis Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
tuberous sclerosis Tuberous sclerosis Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
Turner syndrome Turner syndrome Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
Turner syndrome in female with X chromosome see Noonan syndrome Noonan syndrome Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
Turner's phenotype, karyotype normal see Noonan syndrome Noonan syndrome Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
Turner's syndrome see Turner syndrome Turner syndrome Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
Turner-like syndrome see Noonan syndrome Noonan syndrome Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
Type 2 Gaucher disease see Gaucher disease type 2
Type 3 Gaucher disease see Gaucher disease type 3
UDP-galactose-4-epimerase deficiency disease see galactosemia Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
UDP glucose 4-epimerase deficiency disease see galactosemia Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
UDP glucose hexose-1-phosphate uridylyltransferase deficiency see galactosemia Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
Ullrich-Noonan syndrome see Noonan syndrome Noonan syndrome Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
Ullrich-Turner syndrome see Turner syndrome Turner syndrome Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
Undifferentiated deafness see nonsyndromic deafness Nonsyndromic deafness Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
UPS deficiency see acute intermittent porphyria Acute intermittent porphyria Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
Urinary bladder cancer see bladder cancer Bladder cancer Bladder cancer is any of several types of malignant growths of the urinary bladder. It is a disease in which abnormal cells multiply without control in the bladder. The bladder is a hollow, muscular organ that stores urine; it is located in the pelvis...
UROD deficiency see porphyria cutanea tarda Porphyria cutanea tarda Porphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
Uroporphyrinogen decarboxylase deficiency see porphyria cutanea tarda Porphyria cutanea tarda Porphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
Uroporphyrinogen synthase deficiency see acute intermittent porphyria Acute intermittent porphyria Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
UROS deficiency see congenital erythropoietic porphyria
Usher syndrome Usher syndrome Usher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
UTP hexose-1-phosphate uridylyltransferase deficiency see galactosemia Galactosemia Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
Van Bogaert-Bertrand syndrome see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
Van der Hoeve syndrome see osteogenesis imperfecta#Type I
variegate porphyria Variegate porphyria Variegate porphyria is an autosomal dominant porphyria that can have acute symptoms along with symptoms that affect the skin...
Velocardiofacial syndrome see 22q11.2 deletion syndrome	D	22q
VHL syndrome see von Hippel-Lindau disease Von Hippel-Lindau disease Von Hippel–Lindau is a rare, autosomal dominant genetic condition in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma and pheochromocytoma...
Vision impairment and blindness see Alström syndrome Alstrom syndrome Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries. It was first described by Carl-Henry Alström in...
Von Bogaert-Bertrand disease see Canavan disease Canavan disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
von Hippel-Lindau disease Von Hippel-Lindau disease Von Hippel–Lindau is a rare, autosomal dominant genetic condition in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma and pheochromocytoma...
Von Recklenhausen-Applebaum disease see hemochromatosis
von Recklinghausen disease see neurofibromatosis type I Neurofibromatosis type I Neurofibromatosis type I , formerly known as von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder. It is possibly the most common inherited disorder caused by a single gene...
VP see variegate porphyria Variegate porphyria Variegate porphyria is an autosomal dominant porphyria that can have acute symptoms along with symptoms that affect the skin...
Vrolik disease see osteogenesis imperfecta Osteogenesis imperfecta Osteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
Waardenburg syndrome Waardenburg syndrome Waardenburg syndrome Waardenburg syndrome Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,[5] Van...
Warburg Sjo Fledelius Syndrome see Micro syndrome Micro syndrome Micro Syndrome also known as WARBM, and Warburg Sjo Fledelius Syndrome, is a rare autosomal recessive genetic disorder characterized by microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism.-Genetics:...		2q21.3
WD see Wilson disease
Weissenbacher-Zweymüller syndrome Weissenbacher-Zweymüller syndrome Weissenbacher–Zweymuller syndrome , also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations in the COL11A2 gene , which codes for the α2 strand of collagen type XI...
Williams Syndrome Williams syndrome Williams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as...
Wilson disease
Wilson's disease see Wilson disease
Wolf–Hirschhorn syndrome	D	4p
Wolff Periodic disease see Mediterranean fever, familial
WZS see Weissenbacher-Zweymüller syndrome Weissenbacher-Zweymüller syndrome Weissenbacher–Zweymuller syndrome , also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations in the COL11A2 gene , which codes for the α2 strand of collagen type XI...
Xeroderma pigmentosum Xeroderma pigmentosum Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. Multiple basal cell carcinomas and other skin...	ERCC4	15
X-linked mental retardation and macroorchidism see fragile X syndrome Fragile X syndrome Fragile X syndrome , Martin–Bell syndrome, or Escalante's syndrome , is a genetic syndrome that is the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability...
X-linked primary hyperuricemia see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked spinal-bulbar muscle atrophy see Kennedy's disease
X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome Lesch-Nyhan syndrome Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
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 Triple X syndrome 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. The condition always produces females, with an XX pair of chromosomes, as well as an additional chromosome, resulting in the formation of XXX. A mosaic form...
XXXX syndrome see 48, XXXX
XXXXX syndrome see 49, XXXXX
XXY syndrome see Klinefelter's syndrome Klinefelter's syndrome Klinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome...
XXY trisomy see Klinefelter's syndrome Klinefelter's syndrome Klinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome...
XYY karyotype see 47,XYY syndrome
XYY syndrome see 47,XYY syndrome
YY syndrome see 47,XYY syndrome

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