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1p36 deletion syndrome see 1p36 deletion syndrome
2-alpha-methyl-3-hydroxybutyricacidemia see beta-ketothiolase deficiency
2-HGA see 2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria see 2-hydroxyglutaric aciduria
2-MBADD see 2-methylbutyryl-CoA dehydrogenase deficiency
2-MBCD deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
2-MBG see 2-methylbutyryl-CoA dehydrogenase deficiency
2-methyl-3-hydroxybutyric aciduria see 17β-hydroxysteroid dehydrogenase type 10 deficiency
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
2-methylbutyryl-CoA dehydrogenase deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
2-methylbutyryl-coenzyme A dehydrogenase deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
2-methylbutyryl glycinuria see 2-methylbutyryl-CoA dehydrogenase deficiency
2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency
2q37 deletion syndrome see 2q37 deletion syndrome
3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
3-alpha-ketothiolase deficiency see beta-ketothiolase deficiency
3-alpha-ktd deficiency see beta-ketothiolase deficiency
3-alpha-oxothiolase deficiency see beta-ketothiolase deficiency
3 beta-HSD deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
3 beta-ol dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyacyl-coenzyme A dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
3-Ketothiolase deficiency see beta-ketothiolase deficiency
3-M syndrome see 3-M syndrome
3-MCC see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-coenzyme A carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria see 3-methylglutaconic aciduria
3-Methylhydroxybutyric acidemia see beta-ketothiolase deficiency
3-MSBN see 3-M syndrome
3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-OH 3-methyl glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-oxoacid CoA transferase deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
3b-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
3H2MBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
3HMG see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3MCC see 3-methylcrotonyl-CoA carboxylase deficiency
3MGA see 3-methylglutaconic aciduria
4-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
4-hydroxybutyricaciduria see succinic semialdehyde dehydrogenase deficiency
4p deletion syndrome see Wolf-Hirschhorn syndrome
4p- syndrome see Wolf-Hirschhorn syndrome
5-alpha reductase deficiency see 5-alpha reductase deficiency
5-oxoprolinemia see glutathione synthetase deficiency
5-oxoprolinuria see glutathione synthetase deficiency
5p deletion syndrome see cri-du-chat syndrome
5p- syndrome see cri-du-chat syndrome
6q24-related transient neonatal diabetes mellitus see 6q24-related transient neonatal diabetes mellitus
6q24-TNDM see 6q24-related transient neonatal diabetes mellitus
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
9q subtelomeric deletion syndrome see Kleefstra syndrome
9q- syndrome see Kleefstra syndrome
9q34.3 deletion syndrome see Kleefstra syndrome
9q34.3 microdeletion syndrome see Kleefstra syndrome
11 beta hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
11b hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
11p deletion syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
11q deletion disorder see Jacobsen syndrome
11q deletion syndrome see Jacobsen syndrome
11q terminal deletion disorder see Jacobsen syndrome
11q23 deletion disorder see Jacobsen syndrome
15q13.3 microdeletion see 15q13.3 microdeletion
15q24 deletion see 15q24 microdeletion
15q24 microdeletion see 15q24 microdeletion
16p11.2 deletion syndrome see 16p11.2 deletion syndrome
17-beta hydroxysteroid dehydrogenase 3 deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
17β-hydroxysteroid dehydrogenase type 10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
17-ketosteroid reductase deficiency of testis see 17-beta hydroxysteroid dehydrogenase 3 deficiency
17-KSR deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
17p- syndrome see Smith-Magenis syndrome
17p11.2 monosomy see Smith-Magenis syndrome
17q21.31 deletion syndrome see 17q21.31 microdeletion syndrome
17q21.31 microdeletion syndrome see 17q21.31 microdeletion syndrome
18p isochromosome see tetrasomy 18p
21-hydroxylase deficiency see 21-hydroxylase deficiency
22q11.2 deletion syndrome see 22q11.2 deletion syndrome; Opitz G/BBB syndrome
22q11.2 duplication see 22q11.2 duplication
22q13.3 deletion syndrome see 22q13.3 deletion syndrome
22q13 deletion syndrome see 22q13.3 deletion syndrome
45,X see Turner syndrome
46,XX testicular disorder of sex development see 46,XX testicular disorder of sex development
46,XY CGD see Swyer syndrome
46,XY complete gonadal dysgenesis see Swyer syndrome
46,XY disorder of sex development due to LH defects see Leydig cell hypoplasia
46, XY Disorders of Sex Development
47,XX,+21 see Down syndrome
47,XXX see triple X syndrome
47,XXY see Klinefelter syndrome
47,XY,+21 see Down syndrome
47,XYY syndrome see 47,XYY syndrome
48,XXYY syndrome see 48,XXYY syndrome
A-alphalipoprotein Neuropathy see Tangier disease
A-T see ataxia-telangiectasia
AAA see triple A syndrome
AADC deficiency see aromatic l-amino acid decarboxylase deficiency
Aarskog-Scott syndrome
Aarskog syndrome see Aarskog-Scott syndrome
AAS see Aarskog-Scott syndrome
AASA dehydrogenase deficiency see pyridoxine-dependent epilepsy
Aase-Smith syndrome II see Diamond-Blackfan anemia
Aase syndrome see Diamond-Blackfan anemia
AAT see alpha-1 antitrypsin deficiency
AB variant see GM2-gangliosidosis, AB variant
ABCB4-related intrahepatic cholestasis see progressive familial intrahepatic cholestasis
ABCB11-related intrahepatic cholestasis see benign recurrent intrahepatic cholestasis; progressive familial intrahepatic cholestasis
abetalipoproteinemia
Absence of vas deferens see congenital bilateral absence of the vas deferens
Absent vasa see congenital bilateral absence of the vas deferens
ACADM deficiency see medium-chain acyl-CoA dehydrogenase deficiency
ACADS deficiency see short-chain acyl-CoA dehydrogenase deficiency
ACADVL see very long-chain acyl-CoA dehydrogenase deficiency
acanthocytosis see abetalipoproteinemia
acanthocytosis with neurologic disorder see chorea-acanthocytosis
ACCPN see Andermann syndrome
ACD see alveolar capillary dysplasia with misalignment of pulmonary veins
aceruloplasminemia
ACH see achondroplasia
Achalasia-addisonian syndrome see triple A syndrome
Achalasia-Addisonianism-Alacrima syndrome see triple A syndrome
Achalasia-alacrima syndrome see triple A syndrome
achondrogenesis
achondroplasia
Acid ceramidase deficiency see Farber lipogranulomatosis
Acid lipase deficiency see Wolman disease
acid maltase deficiency see Pompe disease
acne inversa see hidradenitis suppurativa
Acoustic Neuroma see neurofibromatosis type 2
Acral dysostosis with facial and genital abnormalities see Robinow syndrome
Acrocephalosyndactylia
Acrocephalosyndactyly (Apert) see Apert syndrome
acrocephalosyndactyly III see Saethre-Chotzen syndrome
Acrocephalosyndactyly, type III see Saethre-Chotzen syndrome
acrocephalosyndactyly, type V see Pfeiffer syndrome
Acrocephaly, Skull Asymmetry, and Mild Syndactyly see Saethre-Chotzen syndrome
acrofacial dysostosis 1, Nager type see Nager syndrome
ACS III see Saethre-Chotzen syndrome
ACS V see Pfeiffer syndrome
ACS3 see Saethre-Chotzen syndrome
ACS5 see Pfeiffer syndrome
actin-accumulation myopathy
actin filament aggregate myopathy see actin-accumulation myopathy
actin myopathy see actin-accumulation myopathy
Activator Deficiency/GM2 Gangliosidosis see GM2-gangliosidosis, AB variant
Activator-deficient Tay-Sachs disease see GM2-gangliosidosis, AB variant
acute infectious polyneuritis see Guillain-Barr� syndrome
acute inflammatory polyneuropathy see Guillain-Barr� syndrome
Acute Myeloid Leukemia
acute promyelocytic leukemia
ACY2 deficiency see Canavan disease
acyl-CoA dehydrogenase very long chain deficiency see very long-chain acyl-CoA dehydrogenase deficiency
AD see Alzheimer disease
ADA deficiency see adenosine deaminase deficiency
ADA-SCID see adenosine deaminase deficiency
Adamantiades-Behcet disease see Beh�et disease
Addison's Disease
Adenomatosis, Familial Endocrine see multiple endocrine neoplasia
Adenomatous Polyposis Coli see familial adenomatous polyposis
Adenomatous Polyposis of the Colon see familial adenomatous polyposis
adenosine deaminase deficiency
adenosine monophosphate deaminase deficiency
ADH-resistant diabetes insipidus see nephrogenic diabetes insipidus
ADLTE see autosomal dominant partial epilepsy with auditory features
ADNFLE see autosomal dominant nocturnal frontal lobe epilepsy
ADOA see optic atrophy type 1
ADPEAF see autosomal dominant partial epilepsy with auditory features
Adrenal Gland Disorders
adrenal hyperplasia, hypertensive form see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Adrenal hypoplasia congenita see X-linked adrenal hypoplasia congenita
Adrenoleukodystrophy see X-linked adrenoleukodystrophy
Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
adult neuronal ceroid lipofuscinosis see Kufs disease
adult polyglucosan body disease
Adult premature aging syndrome see Werner syndrome
Adult Progeria see Werner syndrome
adult Refsum disease see Refsum disease
Adynamia Episodica Hereditaria see hyperkalemic periodic paralysis
AEC syndrome see ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
AEG syndrome see SOX2 anophthalmia syndrome
AFD1 see Nager syndrome
afibrinogenemia see congenital afibrinogenemia
African iron overload
AGA deficiency see aspartylglucosaminuria
Agammaglobulinemia see X-linked agammaglobulinemia
AGAT deficiency see arginine:glycine amidinotransferase deficiency
age-related macular degeneration
agenesis of cerebellar vermis see Joubert syndrome
agenesis of corpus callosum with chorioretinal abnormality see Aicardi syndrome
agenesis of corpus callosum with infantile spasms and ocular abnormalities see Aicardi syndrome
agenesis of corpus callosum with neuronopathy see Andermann syndrome
agenesis of corpus callosum with peripheral neuropathy see Andermann syndrome
agenesis of corpus callosum with polyneuropathy see Andermann syndrome
AGL deficiency see glycogen storage disease type III
agnogenic myeloid metaplasia see primary myelofibrosis
AGS see Aicardi-Goutieres syndrome
aHUS see atypical hemolytic-uremic syndrome
AI see amelogenesis imperfecta
Aicardi-Goutieres syndrome
Aicardi syndrome
AIRE deficiency see autoimmune polyglandular syndrome, type 1
AIS see androgen insensitivity syndrome
AKU see alkaptonuria
Alacrima-achalasia-adrenal insufficiency neurologic disorder see triple A syndrome
alactasia see lactose intolerance
Alagille syndrome
Albinism
Albinism, Ocular see ocular albinism
Albinism, Oculocutaneous see oculocutaneous albinism
Albright hereditary osteodystrophy-like syndrome see 2q37 deletion syndrome
Albright-McCune-Sternberg syndrome see McCune-Albright syndrome
Albright-Sternberg syndrome see McCune-Albright syndrome
Albright Syndrome see McCune-Albright syndrome
Albright's disease see McCune-Albright syndrome
Alcaptonuria see alkaptonuria
alcohol-responsive dystonia see myoclonus-dystonia
ALD (Adrenoleukodystrophy) see X-linked adrenoleukodystrophy
ALDOB deficiency see hereditary fructose intolerance
aldolase B deficiency see hereditary fructose intolerance
aldosteronism with hyperplasia of the adrenal cortex see Bartter syndrome
Aldrich Syndrome see Wiskott-Aldrich syndrome
Alexander disease
alkaptonuria
Allan-Herndon-Dudley syndrome
Allan-Herndon syndrome see Allan-Herndon-Dudley syndrome
Allgrove syndrome see triple A syndrome
ALMS see Alstr�m syndrome
Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis see Alpers-Huttenlocher syndrome
Alpers disease see Alpers-Huttenlocher syndrome
Alpers-Huttenlocher syndrome
Alpers progressive infantile poliodystrophy see Alpers-Huttenlocher syndrome
Alpers syndrome see Alpers-Huttenlocher syndrome
alpha-1,4-glucosidase deficiency see Pompe disease
alpha-1 antitrypsin deficiency
2-alpha-methyl-3-hydroxybutyricacidemia see beta-ketothiolase deficiency
3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
3-alpha-ketothiolase deficiency see beta-ketothiolase deficiency
3-alpha-ktd deficiency see beta-ketothiolase deficiency
3-alpha-oxothiolase deficiency see beta-ketothiolase deficiency
5-alpha reductase deficiency
alpha-aminoadipic semialdehyde deficiency disease see hyperlysinemia
alpha-D-mannosidosis see alpha-mannosidosis
Alpha-fucosidase deficiency see fucosidosis
alpha-galactosidase A deficiency see Fabry disease
alpha-galactosidase B deficiency see Schindler disease
alpha-galNAc deficiency, Schindler type see Schindler disease
alpha High Density Lipoprotein Deficiency Disease see Tangier disease
Alpha-L-iduronidase deficiency see mucopolysaccharidosis type I
alpha-mannosidase B deficiency see alpha-mannosidosis
alpha-mannosidase deficiency see alpha-mannosidosis
alpha-mannosidosis
alpha-Methylacetoacetic aciduria see beta-ketothiolase deficiency
alpha-N-acetylgalactosaminidase deficiency see Schindler disease
alpha-NAGA deficiency see Schindler disease
alpha thalassemia
alpha thalassemia X-linked intellectual disability syndrome
Alport syndrome
ALPS see autoimmune lymphoproliferative syndrome
ALS see amyotrophic lateral sclerosis
Alstr�m syndrome
alveolar capillary dysplasia with misalignment of pulmonary veins
ALX see Alexander disease
Alzheimer disease
Alzheimer's Disease see Alzheimer disease
amaurosis, Leber congenital see Leber congenital amaurosis
AMCD1 see distal arthrogryposis type 1
AMD see age-related macular degeneration; Pompe disease
amelogenesis imperfecta
Amino Acid Metabolism, Inborn Errors
Amino Acid Transport Disorders, Inborn
Aminoacylase 2 deficiency see Canavan disease
Amish brittle hair syndrome see trichothiodystrophy
Amish lethal microcephaly
AML M3 see acute promyelocytic leukemia
AMP deaminase deficiency see adenosine monophosphate deaminase deficiency
amyloid cranial neuropathy with lattice corneal dystrophy see lattice corneal dystrophy type II
Amyloidosis
amyloidosis due to mutant gelsolin see lattice corneal dystrophy type II
amyloidosis, Finnish type see lattice corneal dystrophy type II
amyloidosis, Meretoja type see lattice corneal dystrophy type II
amyloidosis V see lattice corneal dystrophy type II
amyotrophic lateral sclerosis
Amyotrophic Neuralgia see hereditary neuralgic amyotrophy
anal-ear-renal-radial malformation syndrome see Townes-Brocks Syndrome
Analphalipoproteinemia see Tangier disease
Andermann syndrome
Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome
Andersen syndrome see Andersen-Tawil syndrome
Andersen-Tawil syndrome
Anderson disease see chylomicron retention disease
Anderson-Fabry disease see Fabry disease
Anderson syndrome see chylomicron retention disease
Anderson-Warburg syndrome see Norrie disease
androgen insensitivity syndrome
androgenetic alopecia
Androgenic alopecia see androgenetic alopecia
Anemia
Anemia, Dyserythropoietic, Congenital see congenital dyserythropoietic anemia
Anemia, hereditary sideroblastic see X-linked sideroblastic anemia
Anemia, Megaloblastic see thiamine-responsive megaloblastic anemia syndrome
Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia
Anemia, Sideroblastic
anencephalia see anencephaly
anencephalus see anencephaly
anencephaly
anesthesia related hyperthermia see malignant hyperthermia
Angelman-like syndrome, X-linked see Christianson syndrome
Angelman syndrome
angio-osteohypertrophy syndrome see Klippel-Trenaunay syndrome
Angiohemophilia see von Willebrand disease
angiokeratoma corporis diffusum see Fabry disease
angiokeratoma corporis diffusum-glycopeptiduria see Schindler disease
angiokeratoma diffuse see Fabry disease
Angiomatosis retinae see von Hippel-Lindau syndrome
ANH1 see X-linked sideroblastic anemia
Anhidrotic Ectodermal Dysplasia see hypohidrotic ectodermal dysplasia
aniridia
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ankylosing spondylitis
annuloaortic ectasia see familial thoracic aortic aneurysm and dissection
Anophthalmia-esophageal-genital syndrome see SOX2 anophthalmia syndrome
Anophthalmos see SOX2 anophthalmia syndrome
anosmic hypogonadism see Kallmann syndrome
anosmic idiopathic hypogonadotropic hypogonadism see Kallmann syndrome
ANS see ataxia neuropathy spectrum
Antithrombin III Deficiency see hereditary antithrombin deficiency
Antley-Bixler syndrome-like phenotype with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency
AO2 see atelosteogenesis type 2
AOI see atelosteogenesis type 1
AOIII see atelosteogenesis type 3
Aortic Aneurysm
aortic stenosis, supravalvular see supravalvular aortic stenosis
APBD see adult polyglucosan body disease
APC resistance, Leiden type see factor V Leiden thrombophilia
APECED see autoimmune polyglandular syndrome, type 1
Apert syndrome
APL see acute promyelocytic leukemia
Aplastic Anemia
Apolipoprotein B deficiency see abetalipoproteinemia
Appelt-Gerken-Lenz syndrome see Roberts syndrome
aprosencephaly see anencephaly
APS type 1 see autoimmune polyglandular syndrome, type 1
APS1 see autoimmune polyglandular syndrome, type 1
AR deficiency see androgen insensitivity syndrome
Arakawa syndrome 1 see glutamate formiminotransferase deficiency
ARCA1 see autosomal recessive cerebellar ataxia type 1
ARD see Refsum disease
ARG1 deficiency see arginase deficiency
arginase deficiency
arginine:glycine amidinotransferase deficiency
Argininemia see arginase deficiency
Argininosuccinate lyase deficiency see argininosuccinic aciduria
argininosuccinic aciduria
argininosuccinyl-CoA lyase deficiency see argininosuccinic aciduria
arginosuccinase deficiency see argininosuccinic aciduria
ARMD see age-related macular degeneration
aromatic l-amino acid decarboxylase deficiency
Arrhythmia
arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic Right Ventricular Dysplasia see arrhythmogenic right ventricular cardiomyopathy
ARSA deficiency see metachromatic leukodystrophy
ARSACS see autosomal recessive spastic ataxia of Charlevoix-Saguenay
arteriohepatic dysplasia (AHD) see Alagille syndrome
Arteriovenous Malformations
Arthritis
arthritis, juvenile rheumatoid see juvenile idiopathic arthritis
Arthrogryposis
arthrogryposis, distal, type 1 see distal arthrogryposis type 1
Arts syndrome
ARVC see arrhythmogenic right ventricular cardiomyopathy
ARVD see arrhythmogenic right ventricular cardiomyopathy
Arylsulfatase A Deficiency Disease see metachromatic leukodystrophy
Arylsulfatase B deficiency see mucopolysaccharidosis type VI
arylsulfatase E deficiency see X-linked chondrodysplasia punctata 1
AS see Angelman syndrome; ankylosing spondylitis
ASA see argininosuccinic aciduria
ASL deficiency see argininosuccinic aciduria
Asp deficiency see Canavan disease
Aspa deficiency see Canavan disease
Aspartoacylase deficiency see Canavan disease
aspartylglucosamidase deficiency see aspartylglucosaminuria
Aspartylglucosaminidase deficiency see aspartylglucosaminuria
aspartylglucosaminuria
Asperger syndrome
Asperger's Syndrome see Asperger syndrome
asphyxiating thoracic dystrophy
asymmetric hypoplasia of facial structures see craniofacial microsomia
ataxia-deafness-optic atrophy, lethal see Arts syndrome
ataxia, fatal X-linked, with deafness and loss of vision see Arts syndrome
ataxia neuropathy spectrum
ataxia-telangiectasia
ataxia-telangiectasia variant 1 see Nijmegen breakage syndrome
Ataxia with Lactic Acidosis, Type II see pyruvate carboxylase deficiency
ataxia with oculomotor apraxia
ataxia with vitamin E deficiency
atelosteogenesis type 1
atelosteogenesis type 2
atelosteogenesis type 3
Atherosclerosis
ATM see ataxia-telangiectasia
ATP8B1-related intrahepatic cholestasis see benign recurrent intrahepatic cholestasis; progressive familial intrahepatic cholestasis
ATR-X syndrome see alpha thalassemia X-linked intellectual disability syndrome
Atrial Fibrillation see familial atrial fibrillation
Atrio-digital syndrome see Holt-Oram syndrome
Atriodigital dysplasia see Holt-Oram syndrome
Atrophia bulborum hereditaria see Norrie disease
ATRX syndrome see alpha thalassemia X-linked intellectual disability syndrome
ATS see Andersen-Tawil syndrome
Attention Deficit Hyperactivity Disorder see 48,XXYY syndrome
atypical hemolytic-uremic syndrome
auditory vertigo see M�ni�re disease
aural vertigo see M�ni�re disease
Auricular Fibrillation see familial atrial fibrillation
auriculobranchiogenic dysplasia see craniofacial microsomia
Autism
autism-dementia-ataxia-loss of purposeful hand use syndrome see Rett syndrome
Autoimmune Diseases
autoimmune lymphoproliferative syndrome
autoimmune polyglandular syndrome, type 1
Autonomic Nervous System Disorders
autosomal dominant cerebrovascular amyloidosis see hereditary cerebral amyloid angiopathy
Autosomal dominant craniometaphyseal dysplasia see craniometaphyseal dysplasia
autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
autosomal dominant familial periodic fever see tumor necrosis factor receptor-associated periodic syndrome
Autosomal Dominant Hereditary Spastic Paraplegia see spastic paraplegia type 4
autosomal dominant MYH9 spectrum disorders see MYH9-related disorder
autosomal dominant myotubular myopathy see centronuclear myopathy
autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome
autosomal dominant optic atrophy see optic atrophy type 1
autosomal dominant partial epilepsy with auditory features
autosomal dominant porencephaly type 1 see familial porencephaly
autosomal dominant spastic paraplegia 8 see spastic paraplegia type 8
autosomal recessive centronuclear myopathy see centronuclear myopathy
autosomal recessive cerebellar ataxia type 1
autosomal recessive cerebellar ataxia with mental retardation see VLDLR-associated cerebellar hypoplasia
autosomal recessive cerebellar hypoplasia with cerebral gyral simplification see VLDLR-associated cerebellar hypoplasia
Autosomal recessive craniometaphyseal dysplasia see craniometaphyseal dysplasia
Autosomal Recessive Hereditary Spastic Paraplegia see spastic paraplegia type 7; Troyer syndrome
autosomal recessive infantile parkinsonism see tyrosine hydroxylase deficiency
autosomal recessive primary microcephaly
Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome
autosomal recessive spastic ataxia of Charlevoix-Saguenay
autosomal recessive spastic paraplegia complicated with thin corpus callosum see spastic paraplegia type 11
autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum see spastic paraplegia type 11
AVED see ataxia with vitamin E deficiency
AxD see Alexander disease
Ayerza Syndrome see pulmonary arterial hypertension
Azorean ataxia see spinocerebellar ataxia type 3
B variant GM2 gangliosidosis see Tay-Sachs disease
Balance Problems
Baller-Gerold syndrome
Baltic myoclonic epilepsy see Unverricht-Lundborg disease
Baltic myoclonus see Unverricht-Lundborg disease
BANF see neurofibromatosis type 2
Bardet-Biedl syndrome
Bartholin-Patau syndrome see trisomy 13
Bartter syndrome
Basal Cell Nevus Syndrome see Gorlin syndrome
basal ganglia disease, adult-onset see neuroferritinopathy
Bassen-Kornzweig Syndrome see abetalipoproteinemia
Batten disease see juvenile Batten disease
Batten-Mayou disease see juvenile Batten disease
Batten-Spielmeyer-Vogt disease see juvenile Batten disease
BBS see Bardet-Biedl syndrome
BCIE see epidermolytic hyperkeratosis
BCKD deficiency see maple syrup urine disease
BCNS see Gorlin syndrome
BDA see Diamond-Blackfan anemia
BDLS see Cornelia de Lange syndrome
BDS see Diamond-Blackfan anemia
Beals-Hecht syndrome see congenital contractural arachnodactyly
Beals syndrome see congenital contractural arachnodactyly
Beare-Stevenson cutis gyrata syndrome
Bechterew Disease see ankylosing spondylitis
Beckwith-Wiedemann syndrome
Beh�et disease
Behcet's Syndrome see Beh�et disease
benign congenital muscular dystrophy see Bethlem myopathy
benign congenital myopathy with contractures see Bethlem myopathy
benign essential blepharospasm
benign essential tremor see essential tremor
benign familial neonatal seizures
Benign paroxysmal peritonitis see familial Mediterranean fever
benign recurrent intrahepatic cholestasis
Benign scapuloperoneal muscular dystrophy with early contractures see Emery-Dreifuss muscular dystrophy
Benign Tumors
Berardinelli-Seip congenital lipodystrophy
Berlin breakage syndrome see Nijmegen breakage syndrome
Bessel-Hagen disease see hereditary multiple exostoses
3 beta-HSD deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
3 beta-ol dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
11 beta hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
17β-hydroxysteroid dehydrogenase type 10 deficiency
beta-galactosidase-1 (GLB1) deficiency see GM1 gangliosidosis
Beta-galactosidosis see GM1 gangliosidosis
beta-glucuronidase deficiency see mucopolysaccharidosis type VII
Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease
beta-ketothiolase deficiency
beta-mannosidase deficiency see beta-mannosidosis
beta-mannosidosis
beta thalassemia
Betalipoprotein Deficiency Disease see abetalipoproteinemia
Bethlem myopathy
Beuren syndrome see Williams syndrome
BFNS see benign familial neonatal seizures
BGS see Baller-Gerold syndrome
BH4 deficiency see tetrahydrobiopterin deficiency
BHD see Birt-Hogg-Dub� syndrome
Biason-Lauber syndrome see WNT4 M�llerian aplasia and ovarian dysfunction
Biber-Haab-Dimmer dystrophy see lattice corneal dystrophy type I
bidirectional tachycardia induced by catecholamines see catecholaminergic polymorphic ventricular tachycardia
BIDS syndrome see trichothiodystrophy
BIE see epidermolytic hyperkeratosis
Bilateral Acoustic Neurofibromatosis see neurofibromatosis type 2
Bile Duct Diseases
BIOT see biotinidase deficiency
biotinidase deficiency
Bipolar Disorder see PPM-X syndrome
Birt-Hogg-Dub� syndrome
Birth Defects
BKT see beta-ketothiolase deficiency
Blackfan Diamond anemia see Diamond-Blackfan anemia
Blackfan-Diamond disease see Diamond-Blackfan anemia
Blackfan-Diamond syndrome see Diamond-Blackfan anemia
bladder cancer
Bleeding Disorders
blepharophimosis, ptosis, and epicanthus inversus syndrome
Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
Bloch-Siemens syndrome see incontinentia pigmenti
Bloch-Sulzberger Syndrome see incontinentia pigmenti
Blood and Blood Disorders
Blood Protein Disorders
Bloom syndrome
blue baby syndrome see methemoglobinemia, beta-globin type
BMCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
BMPR1A-related juvenile polyposis see juvenile polyposis syndrome
Bone Cancer
Bone Diseases
Bone Marrow Diseases
boomerang dysplasia
BOR see branchiootorenal syndrome
Bourneville Disease see tuberous sclerosis complex
Bourneville Phakomatosis see tuberous sclerosis complex
BPES see blepharophimosis, ptosis, and epicanthus inversus syndrome
Brachial Neuralgia see hereditary neuralgic amyotrophy
Brachial Neuritis see hereditary neuralgic amyotrophy
Brachial Plexus Neuritis see hereditary neuralgic amyotrophy
Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
brachydactyly-mental retardation syndrome see 2q37 deletion syndrome
Brain Diseases
Brain Malformations
brain small-vessel disease with hemorrhage see COL4A1-related brain small-vessel disease
Branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease
Branched-Chain Ketoaciduria see maple syrup urine disease
Branchio-Oto-Renal Syndrome see branchiootorenal syndrome
Branchio-Otorenal Dysplasia see branchiootorenal syndrome
Branchio-Otorenal Syndrome see branchiootorenal syndrome
branchiootorenal syndrome
breast cancer
Breathing Problems see nemaline myopathy
BRIC see benign recurrent intrahepatic cholestasis
Brittle bone disease see osteogenesis imperfecta
brittle hair-intellectual impairment-decreased fertility-short stature syndrome see trichothiodystrophy
Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
Brody myopathy
Bronze Diabetes see hemochromatosis
Bronzed cirrhosis see hemochromatosis
Brugada syndrome
Brunzell syndrome (with bone cysts) see Berardinelli-Seip congenital lipodystrophy
Bruton's agammaglobulinemia see X-linked agammaglobulinemia
BSCL see Berardinelli-Seip congenital lipodystrophy
BSEP deficiency see progressive familial intrahepatic cholestasis
BTD deficiency see biotinidase deficiency
Buckley syndrome see Job syndrome
Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy
bullous congenital ichthyosiform erythroderma see epidermolytic hyperkeratosis
bullous erythroderma ichthyosiforme see epidermolytic hyperkeratosis
bullous erythroderma ichthyosiformis congenita of Brocq see epidermolytic hyperkeratosis
bullous ichthyosiform erythroderma see epidermolytic hyperkeratosis
Burger-Grutz syndrome see familial lipoprotein lipase deficiency
butyrylcholinesterase deficiency see pseudocholinesterase deficiency
BWS see Beckwith-Wiedemann syndrome
Byler disease see progressive familial intrahepatic cholestasis
Byler syndrome see progressive familial intrahepatic cholestasis
C1 esterase inhibitor deficiency see hereditary angioedema
C1 inhibitor deficiency see hereditary angioedema
C3 inactivator deficiency see complement factor I deficiency
CAA see hereditary cerebral amyloid angiopathy
CACH syndrome see leukoencephalopathy with vanishing white matter
CACT deficiency see carnitine-acylcarnitine translocase deficiency
CADASIL see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CAH1 see 21-hydroxylase deficiency
callosal agenesis and ocular abnormalities see Aicardi syndrome
campomelic dysplasia
Camptomelic dysplasia see campomelic dysplasia
Camurati-Engelmann disease
Canale-Smith syndrome see autoimmune lymphoproliferative syndrome
Canavan disease
Cancer
Cancer Family Syndrome see Lynch syndrome
Cancer of breast see breast cancer
Cancer of the bladder see bladder cancer
cap myopathy
capillary malformation-arteriovenous malformation syndrome
CARASIL see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Carbamoyl-Phosphate Synthase I Deficiency Disease see carbamoyl phosphate synthetase I deficiency
carbamoyl phosphate synthetase I deficiency
Carbamyl-Phosphate Synthetase I Deficiency Disease see carbamoyl phosphate synthetase I deficiency
carbohydrate-deficient glycoprotein syndrome type Ia see congenital disorder of glycosylation type Ia
carbohydrate intolerance see glucose-galactose malabsorption
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
Cardiac-limb syndrome see Holt-Oram syndrome
Cardio-auditory-syncope syndrome see Jervell and Lange-Nielsen syndrome
cardio-cutaneous syndrome see multiple lentigines syndrome
cardio-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
Cardioauditory syndrome of Jervell and Lange-Nielsen see Jervell and Lange-Nielsen syndrome
cardiofaciocutaneous syndrome
Cardiomyopathy
Cardiomyopathy, Dilated see DMD-associated dilated cardiomyopathy
cardiomyopathy, restrictive see familial restrictive cardiomyopathy
cardiovertebral syndrome see Alagille syndrome
Carmi syndrome see epidermolysis bullosa with pyloric atresia
Carney complex
carnitine-acylcarnitine translocase deficiency
carnitine palmitoyltransferase I deficiency
carnitine palmitoyltransferase II deficiency
carnitine transporter deficiency see primary carnitine deficiency
carnitine uptake defect see primary carnitine deficiency
carnitine uptake deficiency see primary carnitine deficiency
Carpal Tunnel Syndrome see hereditary neuropathy with liability to pressure palsies
cartilage-hair hypoplasia
cat cry syndrome see cri-du-chat syndrome
Cataract
CATCH22 see 22q11.2 deletion syndrome
Catecholamine-induced polymorphic ventricular tachycardia see catecholaminergic polymorphic ventricular tachycardia
catecholaminergic polymorphic ventricular tachycardia
Catlin marks see enlarged parietal foramina
CATSPER-related nonsyndromic male infertility see CATSPER1-related nonsyndromic male infertility
CATSPER1-related nonsyndromic male infertility
caudal regression syndrome
CAVD see congenital bilateral absence of the vas deferens
CAVE complex see Pallister-Hall syndrome
Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
CBAVD see congenital bilateral absence of the vas deferens
CCA see congenital contractural arachnodactyly
CCD see central core disease
CCFDN see congenital cataracts, facial dysmorphism, and neuropathy
CCHS see congenital central hypoventilation syndrome
CCO see central core disease
CDA see congenital dyserythropoietic anemia
CDG Ia see congenital disorder of glycosylation type Ia
CDG1a see congenital disorder of glycosylation type Ia
CDGS1a see congenital disorder of glycosylation type Ia
CDLS see Cornelia de Lange syndrome
CDPX1 see X-linked chondrodysplasia punctata 1
CDPX2 see X-linked chondrodysplasia punctata 2
CDS see Chanarin-Dorfman syndrome
CEBPA-dependent familial acute myeloid leukemia see familial acute myeloid leukemia with mutated CEBPA
CED see Camurati-Engelmann disease
celiac disease
central core disease
central diabetes insipidus see neurohypophyseal diabetes insipidus
Central Nervous System Cavernous Hemangioma see cerebral cavernous malformation
Central Neurofibromatosis see neurofibromatosis type 2
centronuclear myopathy
cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
Ceramidase deficiency see Farber lipogranulomatosis
ceramide trihexosidase deficiency see Fabry disease
Cerebellar Ataxia
cerebellar disorder, nonprogressive, with mental retardation see VLDLR-associated cerebellar hypoplasia
Cerebellar Disorders
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion see VLDLR-associated cerebellar hypoplasia
cerebellar hypoplasia, VLDLR-associated see VLDLR-associated cerebellar hypoplasia
cerebello-oculo-renal syndrome see Joubert syndrome
cerebellooculorenal syndrome 1 see Joubert syndrome
Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome
Cerebral Amyloid Angiopathy see hereditary cerebral amyloid angiopathy
cerebral amyloid angiopathy, familial see hereditary cerebral amyloid angiopathy
cerebral amyloid angiopathy, genetic see hereditary cerebral amyloid angiopathy
Cerebral Arterial Diseases
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
cerebral cavernous malformation
Cerebral gigantism see Sotos syndrome
Cerebral Hemorrhage
cerebral sclerosis see tuberous sclerosis complex
cerebral sclerosis, diffuse, metachromatic form see metachromatic leukodystrophy
cerebroacrovisceral early lethality complex see Pallister-Hall syndrome
cerebroatrophic hyperammonemia see Rett syndrome
cerebrohepatorenal syndrome see Zellweger spectrum
Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy
cerebrooculorenal syndrome see Lowe syndrome
Cerebroside Lipidosis Syndrome see Gaucher disease
Cerebroside Sulphatase Deficiency Disease see metachromatic leukodystrophy
cerebrotendinous xanthomatosis
cerebrovascular ferrocalcinosis see familial idiopathic basal ganglia calcification
cervical fusion syndrome see Klippel-Feil syndrome
CESD see cholesteryl ester storage disease
CF see cystic fibrosis
CFC syndrome see cardiofaciocutaneous syndrome
CFEOM see congenital fibrosis of the extraocular muscles
CFM see craniofacial microsomia
CFTD see congenital fiber-type disproportion
CH see congenital hypothyroidism
CHAC see chorea-acanthocytosis
Chanarin-Dorfman syndrome
Char syndrome
Charcot disease see amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease
CHARGE syndrome
Charlevoix disease see Andermann syndrome
Charlevoix-Saguenay spastic ataxia see autosomal recessive spastic ataxia of Charlevoix-Saguenay
Chediak-Higashi syndrome
Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome
chemodectoma see nonsyndromic paraganglioma
cherry red spot myoclonus syndrome see sialidosis
cherubism
CHF see congenital hepatic fibrosis
CHH see cartilage-hair hypoplasia
CHILD syndrome see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
childhood ataxia with central nervous system hypomyelination see leukoencephalopathy with vanishing white matter
childhood epileptic encephalopathy with diffuse slow spikes and waves see Lennox-Gastaut syndrome
childhood myocerebrohepatopathy spectrum
CHMP2B-related frontotemporal dementia
CHMRQ1 see VLDLR-associated cerebellar hypoplasia
Cholestasis, Intrahepatic
cholestasis with peripheral pulmonary stenosis see Alagille syndrome
Cholesterol
Cholesterol Ester Storage Disease see cholesteryl ester storage disease
Cholesterol thesaurismosis see Tangier disease
cholesteryl ester storage disease
cholinesterase II deficiency see pseudocholinesterase deficiency
Chondrodysplasia Punctata
chondrodysplasia punctata 1, X-linked see X-linked chondrodysplasia punctata 1
chondrodysplasia punctata 2, X-linked see X-linked chondrodysplasia punctata 2
chondrodysplasia punctata, rhizomelic see rhizomelic chondrodysplasia punctata
chondrodysplasia with hemangioma see Maffucci syndrome
chondrodystrophy, hydropic and prenatally lethal type see Greenberg dysplasia
Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
Chondroectodermal Dysplasia see Ellis-van Creveld syndrome
chondroectodermal dysplasia-like syndrome see asphyxiating thoracic dystrophy
chondroplasia angiomatosis see Maffucci syndrome
chordoma
chorea-acanthocytosis
Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
chorioretinal anomalies with ACC see Aicardi syndrome
choroidal sclerosis see choroideremia
choroideremia
Chotzen syndrome see Saethre-Chotzen syndrome
Christ-Siemens-Touraine Syndrome see hypohidrotic ectodermal dysplasia
Christianson syndrome
chromosome 1p36 deletion syndrome see 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome, 200-KB see thrombocytopenia-absent radius syndrome
chromosome 3-linked frontotemporal dementia see CHMP2B-related frontotemporal dementia
chromosome 4p deletion syndrome see Wolf-Hirschhorn syndrome
chromosome 4p monosomy see Wolf-Hirschhorn syndrome
chromosome 5p- Syndrome see cri-du-chat syndrome
chromosome 15q13.3 deletion syndrome see 15q13.3 microdeletion
chromosome 15q15.3 deletion syndrome see sensorineural deafness and male infertility
chromosome 17p deletion syndrome see Smith-Magenis syndrome
chromosome 17q21.31 microdeletion syndrome see 17q21.31 microdeletion syndrome
chromosome 22q11.2 duplication syndrome see 22q11.2 duplication
chromosome 22q11.2 microduplication syndrome see 22q11.2 duplication
Chromosome Disorders
chronic congenital agenerative anemia see Diamond-Blackfan anemia
chronic congenital idiopathic hyperphosphatasemia see juvenile Paget disease
chronic eosinophilic leukemia see PDGFRA-associated chronic eosinophilic leukemia
chronic idiopathic intestinal pseudo-obstruction see intestinal pseudo-obstruction
chronic idiopathic myelofibrosis see primary myelofibrosis
chronic infantile neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
Chronic Motor and Vocal Tic Disorder see Tourette syndrome
chronic neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
chronic progressive external ophthalmoplegia see progressive external ophthalmoplegia
chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis see Majeed syndrome
CHS see Chediak-Higashi syndrome
chylomicron retention disease
CIIP see intestinal pseudo-obstruction
Ciliary Motility Disorders see primary ciliary dyskinesia
CINCA see neonatal onset multisystem inflammatory disease
CIPA see congenital insensitivity to pain with anhidrosis
Cirrhosis
CIT see citrullinemia
citrullinemia
Classic Galactosemia see galactosemia
classic juvenile NCL see juvenile Batten disease
classic lissencephaly see X-linked lissencephaly
classic Refsum disease see Refsum disease
classical lissencephaly syndrome see Miller-Dieker syndrome
Classical Niemann-Pick Disease see Niemann-Pick disease
cleft lip and/or palate with mucous cysts of lower lip see van der Woude syndrome
Cleft Lip and Palate
cleft spine see spina bifida
cleidocranial dysplasia
CLN3-related neuronal ceroid-lipofuscinosis see juvenile Batten disease
CLN4A see Kufs disease
CLS see Coffin-Lowry syndrome
CM-AVM see capillary malformation-arteriovenous malformation syndrome
CMD see craniometaphyseal dysplasia
CMD3B see DMD-associated dilated cardiomyopathy
CMRD see chylomicron retention disease
CMS see congenital myasthenic syndrome
CMT see Charcot-Marie-Tooth disease
CNM see X-linked myotubular myopathy
co-contractive retraction syndrome see isolated Duane retraction syndrome
COCA 1 see Lynch syndrome
Cockayne-Pelizaeus-Merzbacher Disease see Pelizaeus-Merzbacher disease
Cockayne syndrome
Coffin-Lowry syndrome
Cohen syndrome
COL4A1-related brain small-vessel disease
cold hypersensitivity see familial cold autoinflammatory syndrome
Colitis, Granulomatous see Crohn disease
collodion baby see lamellar ichthyosis; nonbullous congenital ichthyosiform erythroderma
coloboma
coloboma of optic nerve with renal disease see renal coloboma syndrome
coloboma-ureteral-renal syndrome see renal coloboma syndrome
Colon cancer, familial see familial adenomatous polyposis
Colonic Diseases
Colonic Polyps
Color Blindness see color vision deficiency; optic atrophy type 1
color vision deficiency
Colorectal Cancer
Colorectal Neoplasms, Hereditary Nonpolyposis see Lynch syndrome
combined partial deficiency of 17-hydroxylase and 21-hydroxylase see cytochrome P450 oxidoreductase deficiency
combined pituitary hormone deficiency
common variable immune deficiency
Common Variable Immunodeficiency see common variable immune deficiency
complement factor I deficiency
Complete HPRT deficiency see Lesch-Nyhan syndrome
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
Complete trisomy 13 syndrome see trisomy 13
complete trisomy 18 syndrome see trisomy 18
complex carbohydrate intolerance see glucose-galactose malabsorption
compression neuropathy see hereditary neuropathy with liability to pressure palsies
cone-rod retinal dystrophy see retinitis pigmentosa
congenital absence of brain see anencephaly
congenital absence of the uterus and vagina (CAUV) see Mayer-Rokitansky-K�ster-Hauser syndrome
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency see cytochrome P450 oxidoreductase deficiency
congenital afibrinogenemia
Congenital agammaglobulinemia see X-linked agammaglobulinemia
congenital agranulocytosis see severe congenital neutropenia
congenital alveolar capillary dysplasia see alveolar capillary dysplasia with misalignment of pulmonary veins
congenital amaurosis of retinal origin see Leber congenital amaurosis
Congenital Antithrombin III Deficiency see hereditary antithrombin deficiency
Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
congenital bilateral absence of the vas deferens
congenital cataracts, facial dysmorphism, and neuropathy
congenital central hypoventilation syndrome
congenital contractural arachnodactyly
congenital diaphragmatic hernia
congenital disorder of glycosylation type Ia
congenital dyserythropoietic anemia
congenital dysplastic angiopathy see Klippel-Trenaunay syndrome
Congenital enamel hypoplasia see amelogenesis imperfecta
congenital erythroid hypoplastic anemia see Diamond-Blackfan anemia
congenital facial diplegia see Moebius syndrome
Congenital familial lymphedema see Milroy disease
congenital fiber-type disproportion
congenital fibrosis of the extraocular muscles
Congenital folate malabsorption see hereditary folate malabsorption
congenital generalized lipodystrophy see Berardinelli-Seip congenital lipodystrophy
Congenital Heart Defects
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
congenital hepatic fibrosis
congenital hereditary hematuria see Alport syndrome
congenital hyperinsulinism see familial hyperinsulinism
congenital hypoplastic anemia of Blackfan and Diamond see Diamond-Blackfan anemia
congenital hypothyroidism
congenital icthyosis mental retardation spasticity syndrome see Sj�gren-Larsson syndrome
congenital insensitivity to pain see hereditary sensory and autonomic neuropathy type V
congenital insensitivity to pain with anhidrosis
Congenital Lipomatosis of Pancreas see Shwachman-Diamond syndrome
Congenital lysinuria see lysinuric protein intolerance
Congenital mesodermal dysmorphodystrophy see Weill-Marchesani syndrome
congenital methemoglobinemia see methemoglobinemia, beta-globin type
congenital motor nystagmus see X-linked infantile nystagmus
congenital myasthenic syndrome
congenital myopathy with caps see cap myopathy
congenital myopathy with excess of thin filaments see actin-accumulation myopathy
Congenital myotonia see myotonia congenita
congenital nephrogenic diabetes insipidus see nephrogenic diabetes insipidus
congenital neutropenia see severe congenital neutropenia
congenital nonbullous ichthyosiform erythroderma see nonbullous congenital ichthyosiform erythroderma
congenital ophthalmoplegia and facial paresis see Moebius syndrome
congenital osteopetrosis see osteopetrosis
congenital pachyonychia see pachyonychia congenita
Congenital poikiloderma see Rothmund-Thomson Syndrome
congenital pontocerebellar hypoplasia see pontocerebellar hypoplasia
congenital progressive oculo-acoustico-cerebral degeneration see Norrie disease
congenital pure red cell anemia see Diamond-Blackfan anemia
congenital pure red cell aplasia see Diamond-Blackfan anemia
congenital retinal blindness see Leber congenital amaurosis
congenital scoliosis with unilateral unsegmented bar see spondylocarpotarsal synostosis syndrome
congenital sensory neuropathy see hereditary sensory and autonomic neuropathy type II
congenital short bowel syndrome see intestinal pseudo-obstruction
Congenital sideroblastic anaemia see X-linked sideroblastic anemia
congenital spherocytic hemolytic anemia see hereditary spherocytosis
congenital spherocytosis see hereditary spherocytosis
congenital stiff-man syndrome see hereditary hyperekplexia
congenital stiff-person syndrome see hereditary hyperekplexia
congenital stromal corneal dystrophy
congenital sucrase-isomaltase deficiency
congenital synspondylism see spondylocarpotarsal synostosis syndrome
congenital telangiectatic erythema see Bloom syndrome
congenital X-linked retinoschisis see X-linked juvenile retinoschisis
Connective Tissue Disorders
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
Conradi-H�nermann-Happle syndrome see X-linked chondrodysplasia punctata 2
Conradi-H�nermann Syndrome see X-linked chondrodysplasia punctata 2
constitutional liver dysfunction see Gilbert syndrome
contractural arachnodactyly, congenital see congenital contractural arachnodactyly
Copper storage disease see Wilson disease
Copper transport disease see Menkes syndrome
Cori disease see glycogen storage disease type III
Corneal Disorders
Corneal Dystrophies, Hereditary
corneal dystrophy, congenital stromal see congenital stromal corneal dystrophy
Cornelia de Lange syndrome
Coronary Artery Disease see Werner syndrome
CORS see Joubert syndrome
Costello syndrome
Cowden syndrome
CPEO see progressive external ophthalmoplegia
CPHD see combined pituitary hormone deficiency
CPT 1A deficiency see carnitine palmitoyltransferase I deficiency
CPT deficiency, hepatic, type I see carnitine palmitoyltransferase I deficiency
CPT I deficiency see carnitine palmitoyltransferase I deficiency
CPT II deficiency see carnitine palmitoyltransferase II deficiency
CPT2 deficiency see carnitine palmitoyltransferase II deficiency
CPVT see catecholaminergic polymorphic ventricular tachycardia
craniocarpotarsal dysplasia see Freeman-Sheldon syndrome
craniocarpotarsal dystrophy see Freeman-Sheldon syndrome
Craniofacial Abnormalities
Craniofacial dysarthrosis see Crouzon syndrome
Craniofacial Dysostosis see Crouzon syndrome; Crouzonodermoskeletal syndrome; Miller syndrome; Nager syndrome; Treacher Collins syndrome
craniofacial microsomia
Craniofacial-skeletal-dermatologic dysplasia see Pfeiffer syndrome
craniometaphyseal dysplasia
cranioorodigital syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
Craniosynostosis-radial aplasia syndrome see Baller-Gerold syndrome
Craniosynostosis with radial defects see Baller-Gerold syndrome
cranium bifidum see enlarged parietal foramina
CRASH syndrome see L1 syndrome
CRB see Leber congenital amaurosis
CRD see Refsum disease
creatine deficiency syndrome due to AGAT deficiency see arginine:glycine amidinotransferase deficiency
creatine deficiency syndrome due to GAMT deficiency see guanidinoacetate methyltransferase deficiency
creatine transporter defect see X-linked creatine deficiency
creatine transporter deficiency see X-linked creatine deficiency
Cree encephalitis see Aicardi-Goutieres syndrome
Cree leukoencephalopathy see leukoencephalopathy with vanishing white matter
Cretinism see congenital hypothyroidism
Creutzfeldt-Jakob Disease see prion disease
cri-du-chat syndrome
Crigler-Najjar syndrome
Crohn disease
Crohn's Disease see Crohn disease
Cross-McKusick syndrome see Troyer syndrome
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome
cryptogenic fibrosing alveolitis see idiopathic pulmonary fibrosis
CS see Cockayne syndrome; Cowden syndrome
CSCD see congenital stromal corneal dystrophy
CSID see congenital sucrase-isomaltase deficiency
CSNU see cystinuria
CST syndrome see hypohidrotic ectodermal dysplasia
CTX see cerebrotendinous xanthomatosis
CUD see primary carnitine deficiency
Cutaneous ossification see progressive osseous heteroplasia
Cutis gyrata syndrome of Beare and Stevenson see Beare-Stevenson cutis gyrata syndrome
cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome
cutis laxa
CVS see cyclic vomiting syndrome
cyclic neutropenia
cyclic vomiting syndrome
CYP21 deficiency see 21-hydroxylase deficiency
cystathionine beta synthase deficiency see homocystinuria
cystic fibrosis
Cystine storage disease see cystinosis
Cystinoses see cystinosis
cystinosis
cystinuria
cytochrome P450 oxidoreductase deficiency
Czech dysplasia
D-glycerate dehydrogenase deficiency see primary hyperoxaluria
DA1 see distal arthrogryposis type 1
DA2A see Freeman-Sheldon syndrome
DACS see congenital stromal corneal dystrophy
DAF syndrome see Niemann-Pick disease
dairy product intolerance see lactose intolerance
Danon disease
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
Darier disease
Darier-Ferrand tumor see dermatofibrosarcoma protuberans
Darier-Hoffmann tumor see dermatofibrosarcoma protuberans
DAT see Alzheimer disease
DBA see Diamond-Blackfan anemia
DBMD see Duchenne and Becker muscular dystrophy
DBS see Donnai-Barrow syndrome
DCO see L�ri-Weill dyschondrosteosis
DDC deficiency see aromatic l-amino acid decarboxylase deficiency
DDD see dense deposit disease
DDPAC see frontotemporal dementia with parkinsonism-17
De la Chapelle dysplasia see atelosteogenesis type 2
De Lange Syndrome see Cornelia de Lange syndrome
De Morsier syndrome see septo-optic dysplasia
De Vivo disease see GLUT1 deficiency syndrome
deafness-dystonia-optic neuronopathy syndrome
Deafness-dystonia syndrome see deafness-dystonia-optic neuronopathy syndrome
deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
deafness-infertility syndrome see sensorineural deafness and male infertility
Deafness-retinitis pigmentosa syndrome see Usher syndrome
Deafness with goiter see Pendred syndrome
debrancher deficiency see glycogen storage disease type III
decorin-associated congenital stromal corneal dystrophy see congenital stromal corneal dystrophy
Deep Vein Thrombosis
3H2MBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria
deficiency mutase phosphoglycerate see phosphoglycerate mutase deficiency
Deficiency of alkaline phosphatase see hypophosphatasia
deficiency of alpha-glucosidase see Pompe disease
deficiency of cathepsin A see galactosialidosis
Deficiency of glucose-6-phosphate dehydrogenase see glucose-6-phosphate dehydrogenase deficiency
Deficiency of glutathione synthase see glutathione synthetase deficiency
Deficiency of glutathione synthetase see glutathione synthetase deficiency
Deficiency of guanine phosphoribosyltransferase see Lesch-Nyhan syndrome
Deficiency of hydroxymethylglutaryl-CoA lyase see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome
deficiency of lactate dehydrogenase see lactate dehydrogenase deficiency
Deficiency of methionine adenosyltransferase see hypermethioninemia
Deficiency of methylcrotonoyl-CoA carboxylase see 3-methylcrotonyl-CoA carboxylase deficiency
Degenerative Nerve Diseases
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
del(4p) syndrome see Wolf-Hirschhorn syndrome
1p36 deletion syndrome
2q37 deletion syndrome
4p deletion syndrome see Wolf-Hirschhorn syndrome
5p deletion syndrome see cri-du-chat syndrome
9q34.3 deletion syndrome see Kleefstra syndrome
11p deletion syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
11q deletion disorder see Jacobsen syndrome
11q deletion syndrome see Jacobsen syndrome
11q23 deletion disorder see Jacobsen syndrome
15q24 deletion see 15q24 microdeletion
16p11.2 deletion syndrome
deletion 17p syndrome see Smith-Magenis syndrome
17q21.31 deletion syndrome see 17q21.31 microdeletion syndrome
22q11.2 deletion syndrome see 22q11.2 deletion syndrome; Opitz G/BBB syndrome
22q13.3 deletion syndrome
22q13 deletion syndrome see 22q13.3 deletion syndrome
Dementia
demyelinogenic leukodystrophy see Alexander disease
dense deposit disease
dentatorubral-pallidoluysian atrophy
dentinogenesis imperfecta
deoxyguanosine kinase deficiency
Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome
dermatofibrosarcoma protuberans
dermatolysis see cutis laxa
dermatomegaly see cutis laxa
DES-VLDLR see VLDLR-associated cerebellar hypoplasia
DeSanctis-Cacchione syndrome see xeroderma pigmentosum
Developmental Disabilities
Devic disease see neuromyelitis optica
Devic neuromyelitis optica see neuromyelitis optica
Devic syndrome see neuromyelitis optica
DFSP see dermatofibrosarcoma protuberans
DGI see dentinogenesis imperfecta
DGSX see Simpson-Golabi-Behmel syndrome
DGUOK-related mitochondrial DNA depletion syndrome see deoxyguanosine kinase deficiency
DHMN-V see distal hereditary motor neuropathy, type V
DHTR deficiency see androgen insensitivity syndrome
Diabetes
Diabetes Insipidus
diabetes insipidus and mellitus with optic atrophy and deafness see Wolfram syndrome
diabetes insipidus, central see neurohypophyseal diabetes insipidus
diabetes insipidus, diabetes mellitus, optic atrophy, and deafness see Wolfram syndrome
diabetes insipidus, nephrogenic see nephrogenic diabetes insipidus
diabetes insipidus, neurogenic see neurohypophyseal diabetes insipidus
diabetes insipidus, neurohypophyseal see neurohypophyseal diabetes insipidus
diabetes insipidus, pituitary see neurohypophyseal diabetes insipidus
diabetes insipidus renalis see nephrogenic diabetes insipidus
diabetes insipidus secondary to vasopressin deficiency see neurohypophyseal diabetes insipidus
Diamond-Blackfan anemia
diaphragmatic hernia, abnormal face, and distal limb anomalies see Fryns syndrome
diaphragmatic hernia-exomphalos-corpus callosum agenesis see Donnai-Barrow syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome see Donnai-Barrow syndrome
Diaphyseal Aclasis see hereditary multiple exostoses
Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
diaphyseal hyperostosis see Camurati-Engelmann disease
Diarrhea see congenital sucrase-isomaltase deficiency
diastrophic dysplasia
DIDMOAD see Wolfram syndrome
diffuse cerebral sclerosis of Schilder see Alpers-Huttenlocher syndrome
Diffuse Globoid Body Sclerosis see Krabbe disease
diffuse lentiginosis see multiple lentigines syndrome
DiGeorge Syndrome see 22q11.2 deletion syndrome
Digestive Diseases
dihydropyrimidine dehydrogenase deficiency
dihydropyrimidinuria see dihydropyrimidine dehydrogenase deficiency
Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome
dilated cardiomyopathy 3B see DMD-associated dilated cardiomyopathy
DIS see sensorineural deafness and male infertility
disaccharide intolerance I see congenital sucrase-isomaltase deficiency
disinhibition-dementia-parkinsonism-amytrophy complex see frontotemporal dementia with parkinsonism-17
Disorders of Sex Development
distal arthrogryposis type 1
distal arthrogryposis, type 2A see Freeman-Sheldon syndrome
distal hereditary motor neuropathy, type II
distal hereditary motor neuropathy, type V
distal monosomy 1p36 see 1p36 deletion syndrome
Distal Myopathies
Distal myopathy 1 see Laing distal myopathy
distal myopathy 2
Distal myopathy with rimmed vacuoles see inclusion body myopathy 2
DJS see Dubin-Johnson syndrome
DMD-associated dilated cardiomyopathy
DMD-related dilated cardiomyopathy see DMD-associated dilated cardiomyopathy
DMRV see inclusion body myopathy 2
DOA see optic atrophy type 1
dolichospondylic dysplasia see 3-M syndrome
dominant optic atrophy see optic atrophy type 1
Donnai-Barrow syndrome
dopa decarboxylase deficiency see aromatic l-amino acid decarboxylase deficiency
dopa-responsive dystonia
dopa-responsive dystonia due to sepiapterin reductase deficiency see sepiapterin reductase deficiency
dopamine beta-hydroxylase deficiency
Down syndrome
DPD deficiency see dihydropyrimidine dehydrogenase deficiency
DRD see dopa-responsive dystonia
DRPLA see dentatorubral-pallidoluysian atrophy
DRRS see Duane-radial ray syndrome
DSMAV see distal hereditary motor neuropathy, type V
DTD see diastrophic dysplasia
DTM1 see CHMP2B-related frontotemporal dementia
Duane anomaly, isolated see isolated Duane retraction syndrome
Duane-radial ray syndrome
Duane retraction syndrome see isolated Duane retraction syndrome
Duane syndrome see isolated Duane retraction syndrome
Dubin-Johnson syndrome
Duchenne and Becker muscular dystrophy
Duncan disease see X-linked lymphoproliferative disease
22q11.2 duplication
dwarf, achondroplastic see achondroplasia
Dwarf, thanatophoric see thanatophoric dysplasia
Dwarfism
dwarfism, growth hormone deficiency see isolated growth hormone deficiency
dwarfism, pituitary see isolated growth hormone deficiency
dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
dyschondroplasia and cavernous hemangioma see Maffucci syndrome
dyschondrosteosis see L�ri-Weill dyschondrosteosis
dyschondrosteosis homozygous see Langer mesomelic dysplasia
dysequilibrium syndrome-VLDLR see VLDLR-associated cerebellar hypoplasia
dyserthropoietic anemia with thrombocytopenia see dyserythropoietic anemia and thrombocytopenia
dyserythropoietic anemia and thrombocytopenia
Dysgammaglobulinemia see X-linked hyper IgM syndrome
dysgenesis neuroepithelialis retinae see Leber congenital amaurosis
dyskeratosis congenita
dysmyelinogenic leukodystrophy see Alexander disease
dysostosis craniofacialis with hypertelorism see Saethre-Chotzen syndrome
dysplasia linguofacialis see oral-facial-digital syndrome
Dysplasia, Spondyloepiphyseal see X-linked spondyloepiphyseal dysplasia tarda
dysprothrombinemia see prothrombin deficiency
Dystonia
Dystonia 3, torsion, X-linked see X-linked dystonia-parkinsonism
dystonia musculorum deformans see X-linked dystonia-parkinsonism
Dystonia musculorum deformans 1 see early-onset primary dystonia
Dystonia-parkinsonism, X-linked see X-linked dystonia-parkinsonism
dystrophia corneae parenchymatosa congenita see congenital stromal corneal dystrophy
dystrophia myotonica see myotonic dystrophy
dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome
dystrophic epidermolysis bullosa
DYT1 see early-onset primary dystonia
DYT3 see X-linked dystonia-parkinsonism
DYT11 see myoclonus-dystonia
DYT12 see rapid-onset dystonia parkinsonism
EA see episodic ataxia
EAOH see ataxia with oculomotor apraxia
early-onset ataxia with ocular motor apraxia and hypoalbuminemia see ataxia with oculomotor apraxia
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
early-onset glaucoma
early-onset myopathy with fatal cardiomyopathy see Salih myopathy
early-onset primary dystonia
EB-PA see epidermolysis bullosa with pyloric atresia
Ectodermal Dysplasia
Ectopic Ossification see progressive osseous heteroplasia
Eczema
eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome
EDM1 see multiple epiphyseal dysplasia
EDM2 see multiple epiphyseal dysplasia
EDM3 see multiple epiphyseal dysplasia
EDM4 see multiple epiphyseal dysplasia
EDM5 see multiple epiphyseal dysplasia
EDMD see Emery-Dreifuss muscular dystrophy
EDS see Ehlers-Danlos syndrome
Edstrom myopathy see hereditary myopathy with early respiratory failure
Edwards syndrome see trisomy 18
EHK see epidermolytic hyperkeratosis
Ehlers-Danlos syndrome
Electron transfer flavoprotein deficiency see glutaric acidemia type II
Elevated cholesterol see hypercholesterolemia
Elfin Facies Syndrome see Williams syndrome
Elfin facies with hypercalcemia see Williams syndrome
Ellis-van Creveld syndrome
EMA see glutaric acidemia type II
Emanuel syndrome
EME see ethylmalonic encephalopathy
Emery-Dreifuss muscular dystrophy
EMG syndrome see Beckwith-Wiedemann syndrome
Emphysema see alpha-1 antitrypsin deficiency
encephalopathy due to GLUT1 deficiency see GLUT1 deficiency syndrome
Encephalopathy, petechiae, and ethylmalonic aciduria see ethylmalonic encephalopathy
encephalopathy with basal ganglia calcification see Aicardi-Goutieres syndrome
enchondromatosis with hemangiomata see Maffucci syndrome
Endocrine Diseases
Endocrine Neoplasia, Multiple see multiple endocrine neoplasia
Engelmann's Disease see Camurati-Engelmann disease
enlarged parietal foramina
enteric neuropathy see intestinal pseudo-obstruction
Enteritis, Granulomatous see Crohn disease
Enteritis, Regional see Crohn disease
entrapment neuropathy see hereditary neuropathy with liability to pressure palsies
Eosinophilic Disorders see PDGFRA-associated chronic eosinophilic leukemia
EPD see pyridoxine-dependent epilepsy
EPEMA syndrome see ethylmalonic encephalopathy
epidermal nevus
Epidermolysis Bullosa
Epidermolysis Bullosa, Dystrophic see dystrophic epidermolysis bullosa
Epidermolysis Bullosa Dystrophica see dystrophic epidermolysis bullosa
Epidermolysis Bullosa, Junctional see junctional epidermolysis bullosa
epidermolysis bullosa simplex
epidermolysis bullosa with pyloric atresia
epidermolytic hyperkeratosis
Epilepsies, Partial
Epilepsy
Epilepsy, Frontal Lobe see autosomal dominant nocturnal frontal lobe epilepsy
Epilepsy, partial, with auditory features see autosomal dominant partial epilepsy with auditory features
epilepsy, progressive myoclonic, Lafora see Lafora progressive myoclonus epilepsy
epilepsy, pyridoxine-dependent see pyridoxine-dependent epilepsy
Epiloia see tuberous sclerosis complex
Epimerase deficiency galactosemia see galactosemia
Epiphyseal dysplasia, Fairbank type see multiple epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 1 see multiple epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 2 see multiple epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 3 see multiple epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 4 see multiple epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 5 see multiple epiphyseal dysplasia
Epiphyseal dysplasia, Ribbing type see multiple epiphyseal dysplasia
Episkopi blindness see Norrie disease
episodic ataxia
EPM1 see Unverricht-Lundborg disease
EPM1B see PRICKLE1-related progressive myoclonus epilepsy with ataxia
Epstein-Barr virus-induced lymphoproliferative disease in males see X-linked lymphoproliferative disease
Erythermalgia see erythromelalgia
erythroblastic anemia see beta thalassemia
erythrogenesis imperfecta see Diamond-Blackfan anemia
Erythroid 5-aminolevulinate synthase deficiency see X-linked sideroblastic anemia
erythromelalgia
Escobar syndrome see multiple pterygium syndrome
Esophagus Disorders see triple A syndrome
essential blepharospasm see benign essential blepharospasm
essential thrombocythemia
essential tremor
ETFA deficiency see glutaric acidemia type II
ETFB deficiency see glutaric acidemia type II
ETFDH deficiency see glutaric acidemia type II
Ethylmalonic-adipicaciduria see glutaric acidemia type II
ethylmalonic encephalopathy
ETL1 see autosomal dominant partial epilepsy with auditory features
Eulenburg Disease see paramyotonia congenita
exercise-induced myopathy see adenosine monophosphate deaminase deficiency
Exomphalos-Macroglossia-Gigantism Syndrome see Beckwith-Wiedemann syndrome
Exostoses, Multiple Hereditary see hereditary multiple exostoses
Eye Cancer see retinoblastoma
Eye Diseases
Eye Diseases, Hereditary
Eye Movement Disorders
Eyelid Disorders
eyelid twitching see benign essential blepharospasm
FA see Fanconi anemia; Friedreich ataxia
FAA see familial thoracic aortic aneurysm and dissection
Fabry disease
Facial Injuries and Disorders
Facio-digito-genital dysplasia see Aarskog-Scott syndrome
Facio-genito-popliteal syndrome see popliteal pterygium syndrome
Facio-Scapulo-Humeral Dystrophy see facioscapulohumeral muscular dystrophy
facioauriculovertebral dysplasia see craniofacial microsomia
faciocutaneoskeletal syndrome see Costello syndrome
Faciogenital dysplasia see Aarskog-Scott syndrome
faciooculoacousticorenal syndrome see Donnai-Barrow syndrome
faciopalatoosseous syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
facioscapulohumeral muscular dystrophy
Facioscapuloperoneal muscular dystrophy see facioscapulohumeral muscular dystrophy
Factor II Deficiency see prothrombin deficiency
factor V Leiden thrombophilia
Fahr disease see familial idiopathic basal ganglia calcification
Fahr's syndrome see familial idiopathic basal ganglia calcification
FALDH deficiency see Sj�gren-Larsson syndrome
Familial Acoustic Neuromas see neurofibromatosis type 2
familial acute myeloid leukemia with mutated CEBPA
familial adenomatous polyposis
familial afibrinogenemia see congenital afibrinogenemia
familial Alzheimer disease (FAD) see Alzheimer disease
familial amyloid polyneuropathy type IV see lattice corneal dystrophy type II
familial amyloidosis, Finnish type see lattice corneal dystrophy type II
familial aplasia of the vermis see Joubert syndrome
familial apoceruloplasmin deficiency see aceruloplasminemia
familial atrial fibrillation
Familial benign giant-cell tumor of the jaw see cherubism
familial brachial plexus neuritis see hereditary neuralgic amyotrophy
Familial Cavernous Hemangioma see cerebral cavernous malformation
Familial Cavernous Malformation see cerebral cavernous malformation
Familial Cerebral Cavernous Angioma see cerebral cavernous malformation
Familial Cerebral Cavernous Malformation see cerebral cavernous malformation
familial cold autoinflammatory syndrome
familial cystic parathyroid adenomatosis see hyperparathyroidism-jaw tumor syndrome
familial dysautonomia
familial encephalopathy with neuroserpin inclusion bodies
Familial Endocrine Adenomatosis see multiple endocrine neoplasia
Familial Exostoses see hereditary multiple exostoses
familial exudative vitreoretinopathy
familial fatal Epstein-Barr infection see X-linked lymphoproliferative disease
Familial fibrous dysplasia of jaw see cherubism
Familial gout-kidney disease see uromodulin-associated kidney disease
Familial gouty nephropathy see uromodulin-associated kidney disease
familial hemiplegic migraine
Familial Hemochromatosis see hemochromatosis
familial hemophagocytic lymphohistiocytosis
Familial High Density Lipoprotein Deficiency Disease see Tangier disease
familial horizontal gaze palsy with progressive scoliosis see horizontal gaze palsy with progressive scoliosis
familial hyperaldosteronism
familial hyperekplexia see hereditary hyperekplexia
familial hyperinsulinism
Familial Hyperkalemic Periodic Paralysis see hyperkalemic periodic paralysis
familial hyperlysinemia see hyperlysinemia
familial hyperpotassemia and hypertension see pseudohypoaldosteronism type 2
familial hypertensive hyperkalemia see pseudohypoaldosteronism type 2
Familial Hypoalphalipoproteinemia see Tangier disease
Familial hypobetalipoproteinemia see abetalipoproteinemia
familial hypokalemia-hypomagnesemia see Gitelman syndrome
Familial Hypokalemic Periodic Paralysis see hypokalemic periodic paralysis
familial idiopathic basal ganglia calcification
familial idiopathic hyperphosphatasemia see juvenile Paget disease
familial idiopathic scoliosis associated with congenital encephalopathy see horizontal gaze palsy with progressive scoliosis
Familial incomplete male pseudohermaphroditism, type 2 see 5-alpha reductase deficiency
familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis see Aicardi-Goutieres syndrome
familial infantile scoliosis associated with bilateral paralysis of conjugate gaze see horizontal gaze palsy with progressive scoliosis
familial isolated vitamin E deficiency see ataxia with vitamin E deficiency
Familial juvenile hyperuricemic nephropathy see uromodulin-associated kidney disease
Familial juvenile hyperuricemic nephropathy 2 see REN-related kidney disease
familial lipoprotein lipase deficiency
familial Mediterranean fever
Familial multilocular cystic disease of the jaws see cherubism
familial nodular heterotopia see periventricular heterotopia
familial nonhemolytic jaundice see Gilbert syndrome
familial nonhemolytic unconjugated hyperbilirubinemia see Crigler-Najjar syndrome
Familial nonpolyposis colon cancer see Lynch syndrome
familial osteoectasia see juvenile Paget disease
familial paraganglioma-pheochromocytoma syndromes see hereditary paraganglioma-pheochromocytoma
familial paroxysmal kinesigenic dyskinesia
familial paroxysmal nonkinesigenic dyskinesia
familial persistent pulmonary hypertension of the newborn see alveolar capillary dysplasia with misalignment of pulmonary veins
familial Pick's disease see frontotemporal dementia with parkinsonism-17
familial polymorphic ventricular tachycardia see catecholaminergic polymorphic ventricular tachycardia
familial porencephaly
familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies
familial primary hyperparathyroidism with multiple ossifying jaw fibromas see hyperparathyroidism-jaw tumor syndrome
familial primary pulmonary hypertension see pulmonary arterial hypertension
familial progressive scleroderma see systemic scleroderma
familial pterygium syndrome see multiple pterygium syndrome
familial pyrimidemia see dihydropyrimidine dehydrogenase deficiency
familial restrictive cardiomyopathy
familial thoracic aortic aneurysm and dissection
Familial Thrombotic Thrombocytopenia Purpura see thrombotic thrombocytopenic purpura
familial tremor see essential tremor
familial Turner syndrome see Noonan syndrome
Familial vascular leukoencephalopathy see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
familial veno-occlusive disease with immunodeficiency see hepatic veno-occlusive disease with immunodeficiency
Familial Xanthomatosis see Wolman disease
familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Fanconi anemia
FAP see familial adenomatous polyposis
Farber lipogranulomatosis
fatty aldehyde dehydrogenase deficiency see Sj�gren-Larsson syndrome
FAV see craniofacial microsomia
FCAS see familial cold autoinflammatory syndrome
FCMD see Fukuyama congenital muscular dystrophy
FCS syndrome see Costello syndrome
FCU see familial cold autoinflammatory syndrome
FD see familial dysautonomia
Feingold syndrome
FEL see familial hemophagocytic lymphohistiocytosis
Female Infertility see primary ciliary dyskinesia
female pattern baldness see androgenetic alopecia
Female Pseudo-Turner Syndrome see Noonan syndrome
FENIB see familial encephalopathy with neuroserpin inclusion bodies
ferritin-related neurodegeneration see neuroferritinopathy
Fetal face syndrome see Robinow syndrome
Fetal iritis syndrome see Norrie disease
Fever
FEVR see familial exudative vitreoretinopathy
FG syndrome
FGFR3-associated coronal synostosis see Muenke syndrome
FHL see familial hemophagocytic lymphohistiocytosis
FIBGC see familial idiopathic basal ganglia calcification
fibrinoid degeneration of astrocytes see Alexander disease
Fibrocystic Disease of Pancreas see cystic fibrosis
fibrodysplasia ossificans progressiva
Fibrofolliculomas with trichodiscomas and acrochordons see Birt-Hogg-Dub� syndrome
Fibrous Dysplasia, Polyostotic see McCune-Albright syndrome
Fibrous dysplasia with pigmentary skin changes and precocious puberty see McCune-Albright syndrome
FIC1 deficiency see progressive familial intrahepatic cholestasis
FIGLU-uria see glutamate formiminotransferase deficiency
first and second branchial arch syndrome see craniofacial microsomia
first and second pharyngeal arch syndromes see craniofacial microsomia
Fish malodor syndrome see trimethylaminuria
Fish odor syndrome see trimethylaminuria
Fisher syndrome see Guillain-Barr� syndrome
FIVE see ataxia with vitamin E deficiency
FJHN see uromodulin-associated kidney disease
Fluid and Electrolyte Balance see pseudohypoaldosteronism type 1
FMF see familial Mediterranean fever
FOAR syndrome see Donnai-Barrow syndrome
focal dermal hypoplasia
Folic Acid see hereditary folate malabsorption
Folic acid transport defect see hereditary folate malabsorption
Folling Disease see phenylketonuria
Fong disease see nail-patella syndrome
Foot Injuries and Disorders
foramina parietalia permagna see enlarged parietal foramina
Forbes disease see glycogen storage disease type III
formiminoglutamic aciduria see glutamate formiminotransferase deficiency
formiminotransferase deficiency see glutamate formiminotransferase deficiency
FPF see tumor necrosis factor receptor-associated periodic syndrome
FPO see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
FPP see enlarged parietal foramina
FPPH see pulmonary arterial hypertension
FPVT see catecholaminergic polymorphic ventricular tachycardia
fra(X) syndrome see fragile X syndrome
fragile X syndrome
Fragilitas ossium see osteogenesis imperfecta
Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
FRAXA syndrome see fragile X syndrome
FRDA see Friedreich ataxia
free sialic acid storage disease see sialic acid storage disease
Freeman-Sheldon syndrome
French type sialuria see sialuria
Friedreich ataxia
Friedreich ataxia phenotype with selective vitamin E deficiency see ataxia with vitamin E deficiency
Friedreich-like ataxia see ataxia with vitamin E deficiency
Friedreich's Ataxia see Friedreich ataxia
FRMD7-related infantile nystagmus see X-linked infantile nystagmus
frontometaphyseal dysplasia
frontotemporal dementia with parkinsonism-17
frontotemporal lobar degeneration see GRN-related frontotemporal dementia
fructose-1,6-biphosphate aldolase deficiency see hereditary fructose intolerance
fructose-1-phosphate aldolase deficiency see hereditary fructose intolerance
fructose aldolase B deficiency see hereditary fructose intolerance
fructose intolerance see hereditary fructose intolerance
Fructose Metabolism, Inborn Errors see hereditary fructose intolerance
fructosemia see hereditary fructose intolerance
Fryns syndrome
FSH muscular dystrophy see facioscapulohumeral muscular dystrophy
FSHD see facioscapulohumeral muscular dystrophy
FSS see Freeman-Sheldon syndrome
FTD-3 see CHMP2B-related frontotemporal dementia
FTD-CHMP2B see CHMP2B-related frontotemporal dementia
FTD-GRN see GRN-related frontotemporal dementia
FTD-PGRN see GRN-related frontotemporal dementia
FTD3 see CHMP2B-related frontotemporal dementia
FTDP-17 see frontotemporal dementia with parkinsonism-17
FTDP-17 GRN see GRN-related frontotemporal dementia
FTDU-17 see GRN-related frontotemporal dementia
FTLD see GRN-related frontotemporal dementia
Fuchs endothelial dystrophy
Fucosidase deficiency see fucosidosis
fucosidosis
Fukuhara Disease see myoclonic epilepsy with ragged-red fibers
Fukuyama congenital muscular dystrophy
fumarase deficiency
fumarate hydratase deficiency see fumarase deficiency
fumaric aciduria see fumarase deficiency
FXS see fragile X syndrome
G6PD Deficiency see glucose-6-phosphate dehydrogenase deficiency
G6PDD see glucose-6-phosphate dehydrogenase deficiency
GA I see glutaric acidemia type I
GA II see glutaric acidemia type II
GAA deficiency see Pompe disease
Galactokinase Deficiency Disease see galactosemia
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosemia
Galactose epimerase deficiency see galactosemia
galactosemia
galactosialidosis
Galactosylceramidase Deficiency Disease see Krabbe disease
Galactosylceramide lipidosis see Krabbe disease
galactosylcerebrosidase deficiency see Krabbe disease
galactosylsphingosine lipidosis see Krabbe disease
GALB deficiency see Schindler disease
GALC deficiency see Krabbe disease
GALT Deficiency see galactosemia
Gamma-hydroxybutyric acidemia see succinic semialdehyde dehydrogenase deficiency
gamma-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
Gamstorp disease see hyperkalemic periodic paralysis
Gamstorp episodic adynamy see hyperkalemic periodic paralysis
GAMT deficiency see guanidinoacetate methyltransferase deficiency
GAN see giant axonal neuropathy
Garland-Moorhouse syndrome see Marinesco-Sj�gren syndrome
gastrointestinal stromal tumor
GATA1-related cytopenia see dyserythropoietic anemia and thrombocytopenia
GATA1-related X-linked cytopenia see dyserythropoietic anemia and thrombocytopenia
GATM deficiency see arginine:glycine amidinotransferase deficiency
Gaucher disease
Gaucher's Disease see Gaucher disease
gaze palsy, familial horizontal, with progressive scoliosis see horizontal gaze palsy with progressive scoliosis
GBS see Guillain-Barr� syndrome
GCL see Krabbe disease
GD see Gaucher disease
GDXY see Swyer syndrome
geleophysic dysplasia
Gelineau syndrome see narcolepsy
gelsolin-related amyloidosis see lattice corneal dystrophy type II
Genee-Wiedemann acrofacial dysostosis see Miller syndrome
Genee-Wiedemann syndrome see Miller syndrome
general fibrosis syndrome see congenital fibrosis of the extraocular muscles
generalized lipodystrophy see Berardinelli-Seip congenital lipodystrophy
Genetic Brain Disorders
genetic emphysema see alpha-1 antitrypsin deficiency
genetic hemochromatosis see hemochromatosis
genital renal ear syndrome (GRES) see Mayer-Rokitansky-K�ster-Hauser syndrome
GGM see glucose-galactose malabsorption
giant axonal neuropathy
giant cell chondrodysplasia see atelosteogenesis type 1
Giedion-Langer Syndrome see Langer-Giedion syndrome
Gilbert syndrome
Gilles de la Tourette Syndrome see Tourette syndrome
GIST see gastrointestinal stromal tumor
Gitelman syndrome
GLA deficiency see Fabry disease
Glaucoma
GLD see Krabbe disease
Glioma, retinal see retinoblastoma
Glomerulonephritis, Membranoproliferative see dense deposit disease
Glucocerebrosidase deficiency see Gaucher disease
Glucocerebrosidosis see Gaucher disease
glucose-6-phosphate dehydrogenase deficiency
glucose-galactose malabsorption
glucose transport defect, blood-brain barrier see GLUT1 deficiency syndrome
glucose transporter protein syndrome see GLUT1 deficiency syndrome
glucose transporter type 1 deficiency syndrome see GLUT1 deficiency syndrome
Glucosyl cerebroside lipidosis see Gaucher disease
Glucosylceramidase deficiency see Gaucher disease
Glucosylceramide beta-glucosidase deficiency see Gaucher disease
Glucosylceramide lipidosis see Gaucher disease
GLUT1 deficiency syndrome
glutamate formiminotransferase deficiency
glutaric acidemia type I
glutaric acidemia type II
Glutaryl-CoA dehydrogenase deficiency see glutaric acidemia type I
glutathione synthetase deficiency
gluten enteropathy see celiac disease
glyceric aciduria see primary hyperoxaluria
glycine encephalopathy
glycine N-methyltransferase deficiency see hypermethioninemia
glycogen storage disease type 2B see Danon disease
glycogen storage disease type I
glycogen storage disease type II see Pompe disease
glycogen storage disease type IIb see Danon disease
glycogen storage disease type III
glycogen storage disease type V
glycogen storage disease type VI
glycogen storage disease X see phosphoglycerate mutase deficiency
glycogenosis Type II see Pompe disease
glycolic aciduria see primary hyperoxaluria
glycosylasparaginase deficiency see aspartylglucosaminuria
GM1 gangliosidosis
GM2 Activator Deficiency Disease see GM2-gangliosidosis, AB variant
GM2-gangliosidosis, AB variant
GM2 gangliosidosis, type 1 see Tay-Sachs disease
GM2 gangliosidosis, type 2 see Sandhoff disease
GM2 Gangliosidosis, Type II see Sandhoff disease
GNMT deficiency see hypermethioninemia
Goiter-deafness syndrome see Pendred syndrome
Goldberg syndrome see galactosialidosis
Goldenhar-Gorlin syndrome see craniofacial microsomia
Goldenhar syndrome see craniofacial microsomia
Goltz-Gorlin syndrome see focal dermal hypoplasia
Goltz Syndrome see focal dermal hypoplasia
Gonadal Dysgenesis, 46,XY see Swyer syndrome
GONADAL DYSGENESIS, XY FEMALE TYPE see Swyer syndrome
Gordon hyperkalemia-hypertension syndrome see pseudohypoaldosteronism type 2
Gordon syndrome see pseudohypoaldosteronism type 2
Gorlin syndrome
Gout
gout, PRPS-related see phosphoribosylpyrophosphate synthetase superactivity
Graefe-Usher syndrome see Usher syndrome
Greenberg dysplasia
Greenfield Disease see metachromatic leukodystrophy
Greig cephalopolysyndactyly syndrome
GRN-related frontotemporal dementia
Groenblad-Strandberg syndrome see pseudoxanthoma elasticum
Gronblad-Strandberg syndrome see pseudoxanthoma elasticum
Growth Disorders
growth hormone deficiency dwarfism see isolated growth hormone deficiency
GS see Gitelman syndrome
GSD I see glycogen storage disease type I
GSD II see Pompe disease
GSD III see glycogen storage disease type III
GSD type I see glycogen storage disease type I
GSD type V see glycogen storage disease type V
GSD type VI see glycogen storage disease type VI
GSD V see glycogen storage disease type V
GSD VI see glycogen storage disease type VI
GSD X see phosphoglycerate mutase deficiency
GSD2 see Pompe disease
GSD3 see glycogen storage disease type III
GSD6 see glycogen storage disease type VI
GSD10 see phosphoglycerate mutase deficiency
GSDX see phosphoglycerate mutase deficiency
GTPS see GLUT1 deficiency syndrome
GTS see Tourette syndrome
guanidinoacetate methyltransferase deficiency
Guillain-Barr� syndrome
Gum Disease
GUSB deficiency see mucopolysaccharidosis type VII
Gyrate Atrophy see gyrate atrophy of the choroid and retina
gyrate atrophy of the choroid and retina
3HMG see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HAD deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
Haddad syndrome see congenital central hypoventilation syndrome
HADH deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHSC deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
HAE see hereditary angioedema
Haemochromatosis see hemochromatosis
Hair Loss see androgenetic alopecia
Hair Problems
HAL deficiency see histidinemia
Hall-Hittner syndrome see CHARGE syndrome
Hall-Pallister syndrome see Pallister-Hall syndrome
Hallgren syndrome see Usher syndrome
HANAC see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
hand-foot-genital syndrome
Hand-foot-uterus syndrome see hand-foot-genital syndrome
Hand Injuries and Disorders
HANE see hereditary angioedema
Happle syndrome see X-linked chondrodysplasia punctata 2
harlequin ichthyosis
Hashimoto-Pritzger disease see Langerhans cell histiocytosis
Haw River syndrome see dentatorubral-pallidoluysian atrophy
Hay-Wells syndrome see ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
HbS disease see sickle cell disease
HC see hemochromatosis
HCC see hypomyelination and congenital cataract
HCH see hypochondroplasia
HCHWA see hereditary cerebral amyloid angiopathy
HDDD1 see GRN-related frontotemporal dementia
HDDD2 see GRN-related frontotemporal dementia
HDL Lipoprotein Deficiency Disease see Tangier disease
Hearing Disorders and Deafness
Hearing Problems in Children
Heart Diseases
Heart-hand syndrome, type 1 see Holt-Oram syndrome
Heart Valve Diseases
HED see hypohidrotic ectodermal dysplasia
HEM dysplasia see Greenberg dysplasia
HEM skeletal dysplasia see Greenberg dysplasia
Hemangioma, Cavernous, Central Nervous System see cerebral cavernous malformation
hemangiomata with dyschondroplasia see Maffucci syndrome
hemangiomatosis chondrodystrophica see Maffucci syndrome
Hematoporphyria see porphyria
hematuria-nephropathy-deafness syndrome see Alport syndrome
hematuric hereditary nephritis see Alport syndrome
hemifacial microsomia see craniofacial microsomia
Hemiplegic Migraine, Familial see familial hemiplegic migraine
Hemiplegic-ophthalmoplegic migraine see familial hemiplegic migraine
Hemochromatoses see hemochromatosis
hemochromatosis
hemoglobin M disease see methemoglobinemia, beta-globin type
Hemoglobin S Disease see sickle cell disease
Hemoglobinuria, Paroxysmal see paroxysmal nocturnal hemoglobinuria
Hemolytic-Uremic Syndrome see atypical hemolytic-uremic syndrome
hemophagocytic syndrome see familial hemophagocytic lymphohistiocytosis
hemophilia
hemorrhagic familial nephritis see Alport syndrome
hemorrhagic hereditary nephritis see Alport syndrome
hepatic AGT deficiency see primary hyperoxaluria
hepatic ductular hypoplasia see Alagille syndrome
hepatic glycogen phosphorylase deficiency see glycogen storage disease type VI
Hepatic methionine adenosyltransferase deficiency see hypermethioninemia
hepatic veno-occlusive disease with immunodeficiency
hepatocerebral mitochondrial DNA depletion syndrome see deoxyguanosine kinase deficiency
hepatofacioneurocardiovertebral syndrome see Alagille syndrome
Hepatolenticular degeneration syndrome see Wilson disease
hereditary angioedema
hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
hereditary antithrombin deficiency
hereditary arthro-ophthalmo-dystrophy see Stickler syndrome
Hereditary arthro-ophthalmopathy see Stickler syndrome
Hereditary Autosomal Dominant Spastic Paraplegia see spastic paraplegia type 3A; spastic paraplegia type 4
Hereditary Central Nervous System Demyelinating Diseases
hereditary cerebral amyloid angiopathy
hereditary ceruloplasmin deficiency see aceruloplasminemia
hereditary dysphasic disinhibition dementia see GRN-related frontotemporal dementia
hereditary dystopic lipidosis see Fabry disease
hereditary epithelial dysplasia of retina see Leber congenital amaurosis
hereditary essential myoclonus see myoclonus-dystonia
hereditary essential tremor see essential tremor
hereditary familial congenital hemorrhagic nephritis see Alport syndrome
hereditary ferritinopathy see neuroferritinopathy
hereditary folate malabsorption
hereditary fructose intolerance
hereditary glaucoma see early-onset glaucoma
hereditary hematuria syndrome see Alport syndrome
hereditary hemorrhagic telangiectasia
hereditary hyperekplexia
hereditary hyperparathyroidism-jaw tumor syndrome see hyperparathyroidism-jaw tumor syndrome
hereditary hypophosphatemic rickets
Hereditary inclusion body myopathy see inclusion body myopathy 2
hereditary interstitial pyelonephritis see Alport syndrome
Hereditary iron-loading anemia see X-linked sideroblastic anemia
hereditary leiomyomatosis and renal cell cancer
Hereditary lymphedema type I see Milroy disease
hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
hereditary motor and sensory neuropathy Type IV see Refsum disease
hereditary motor and sensory neuropathy with agenesis of the corpus callosum see Andermann syndrome
hereditary motor neuronopathy see spinal muscular atrophy
hereditary multiple exostoses
hereditary myopathy with early respiratory failure
hereditary myopathy with lactic acidosis see myopathy with deficiency of iron-sulfur cluster assembly enzyme
Hereditary nephritis see Alport syndrome
hereditary neuralgic amyotrophy
hereditary neuropathy with liability to pressure palsies
Hereditary nonpolyposis colorectal cancer see Lynch syndrome
Hereditary Nonpolyposis Colorectal Neoplasms see Lynch syndrome
hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sj�gren syndrome
Hereditary onycho-osteodysplasia see nail-patella syndrome
Hereditary Opalescent Dentin see dentinogenesis imperfecta
Hereditary optic neuroretinopathy see Leber hereditary optic neuropathy
Hereditary Osteo-Onychodysplasias see nail-patella syndrome
hereditary paraganglioma-pheochromocytoma
Hereditary Periodic Fever Syndromes see familial Mediterranean fever
Hereditary Polyposis Coli see familial adenomatous polyposis
hereditary progressive dystonia with marked diurnal fluctuation see dopa-responsive dystonia
hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
Hereditary resistance to activated protein C see factor V Leiden thrombophilia
hereditary retinal aplasia see Leber congenital amaurosis
Hereditary Sensory and Autonomic Neuropathies
hereditary sensory and autonomic neuropathy, type 4 see congenital insensitivity to pain with anhidrosis
hereditary sensory and autonomic neuropathy type II
hereditary sensory and autonomic neuropathy type IV see congenital insensitivity to pain with anhidrosis
hereditary sensory and autonomic neuropathy type V
hereditary sensory neuropathy type 1
Hereditary Spastic Paraplegia
hereditary spastic paraplegia 8 see spastic paraplegia type 8
hereditary spherocytosis
hereditary thrombophilia due to protein C deficiency see protein C deficiency
hereditary thrombophilia due to protein S deficiency see protein S deficiency
hereditary thymine-uraciluria see dihydropyrimidine dehydrogenase deficiency
Hereditary Tyrosinemias see tyrosinemia
hereditary unconjugated hyperbilirubinemia see Crigler-Najjar syndrome
Hereditary X-linked Recessive Spastic Paraplegia see spastic paraplegia type 2
heredofamilial neuritis with brachial plexus predilection see hereditary neuralgic amyotrophy
heredopathia atactica polyneuritiformis see Refsum disease
heredoretinopathia congenitalis see Leber congenital amaurosis
Hermansky-Pudlak syndrome
Hernia
Hers disease see glycogen storage disease type VI
Heterotopic Ossification see progressive osseous heteroplasia
Heterozygous OSMED see Weissenbacher-Zweym�ller syndrome
Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweym�ller syndrome
HexA deficiency see Tay-Sachs disease
Hexosaminidase A and B Deficiency Disease see Sandhoff disease
Hexosaminidase A deficiency see Tay-Sachs disease
Hexosaminidase activator deficiency see GM2-gangliosidosis, AB variant
Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease
HFG syndrome see hand-foot-genital syndrome
HFGS see hand-foot-genital syndrome
HFM see craniofacial microsomia
HFU syndrome see hand-foot-genital syndrome
2-HGA see 2-hydroxyglutaric aciduria
HGPPS see horizontal gaze palsy with progressive scoliosis
HGPS see Hutchinson-Gilford progeria syndrome
HH see hemochromatosis
HHH syndrome see ornithine translocase deficiency
HHT see hereditary hemorrhagic telangiectasia
HI see harlequin ichthyosis
Hibernian familial fever see tumor necrosis factor receptor-associated periodic syndrome
HIBM see inclusion body myopathy 2
hidradenitides, suppurative see hidradenitis suppurativa
hidradenitis suppurativa
HIE syndrome see Job syndrome
HIES see Job syndrome
High Blood Pressure
HIGM1 see X-linked hyper IgM syndrome
Hippel-Lindau Disease see von Hippel-Lindau syndrome
Hirschsprung Disease-Mental Retardation Syndrome see Mowat-Wilson syndrome
HIS deficiency see histidinemia
histidase deficiency see histidinemia
histidine ammonia-lyase deficiency see histidinemia
histidinemia
histiocytosis X see Langerhans cell histiocytosis
HLAH see hemochromatosis
HLCS deficiency see holocarboxylase synthetase deficiency
HLRCC see hereditary leiomyomatosis and renal cell cancer
HMCS see McKusick-Kaufman syndrome
HMERF see hereditary myopathy with early respiratory failure
HMG see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HML see myopathy with deficiency of iron-sulfur cluster assembly enzyme
HMN V see distal hereditary motor neuropathy, type V
HMSN see Charcot-Marie-Tooth disease
HMSN/ACC see Andermann syndrome
HMSN IV see Refsum disease
HMSN type IV see Refsum disease
HNA see hereditary neuralgic amyotrophy
HNPCC see Lynch syndrome
HNPP see hereditary neuropathy with liability to pressure palsies
HOGA see gyrate atrophy of the choroid and retina
HOKPP see hypokalemic periodic paralysis
holocarboxylase synthetase deficiency
Holoprosencephaly see nonsyndromic holoprosencephaly
Holt-Oram syndrome
homocystinuria
Homogentisic acid oxidase deficiency see alkaptonuria
Homogentisic acidura see alkaptonuria
horizontal gaze palsy with progressive scoliosis
Hornstein-Knickenberg syndrome see Birt-Hogg-Dub� syndrome
HOS see Holt-Oram syndrome
Hoyeraal-Hreidarsson syndrome see dyskeratosis congenita
HP1 see primary hyperoxaluria
HP2 see primary hyperoxaluria
HPLH see familial hemophagocytic lymphohistiocytosis
HPS see Hermansky-Pudlak syndrome
HPT-JT see hyperparathyroidism-jaw tumor syndrome
HS see hereditary spherocytosis
HSAN see hereditary sensory neuropathy type 1
HSAN type II see hereditary sensory and autonomic neuropathy type II
HSAN Type III see familial dysautonomia
HSAN type IV see congenital insensitivity to pain with anhidrosis
HSAN type V see hereditary sensory and autonomic neuropathy type V
HSAN V see hereditary sensory and autonomic neuropathy type V
HSAN2 see hereditary sensory and autonomic neuropathy type II
HSAN3 see familial dysautonomia
HSAN4 see congenital insensitivity to pain with anhidrosis
HSAN5 see hereditary sensory and autonomic neuropathy type V
HSANII see hereditary sensory and autonomic neuropathy type II
HSD10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
HSN I see hereditary sensory neuropathy type 1
HSN-III see familial dysautonomia
HSN Type I see hereditary sensory neuropathy type 1
HSN type II see hereditary sensory and autonomic neuropathy type II
HSN1 see hereditary sensory neuropathy type 1
HSP-TCC see spastic paraplegia type 11
Hunter Syndrome see mucopolysaccharidosis type II
Huntington disease
Huntington disease-like syndrome
Huntington's Disease see Huntington disease
Hurler-Scheie Syndrome see mucopolysaccharidosis type I
Hurler Syndrome see mucopolysaccharidosis type I
Hutchinson-Gilford progeria syndrome
hyaloideoretinal degeneration of Wagner see Wagner syndrome
Hydrocephalus
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation see McKusick-Kaufman syndrome
hydronephrosis-inverted smile see Ochoa syndrome
hydronephrosis with peculiar facial expression see Ochoa syndrome
hydrops - ectopic calcification - moth-eaten skeletal dysplasia see Greenberg dysplasia
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyacyl-coenzyme A dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
hydroxyacyl-CoA dehydrogenase II deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
4-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
4-hydroxybutyricaciduria see succinic semialdehyde dehydrogenase deficiency
2-hydroxyglutaric aciduria
11b hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
21-hydroxylase deficiency
Hydroxymethylglutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3b-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
hyper IgD syndrome see mevalonate kinase deficiency
Hyper-IgE Syndrome see Job syndrome
Hyper-IgM syndrome 1 see X-linked hyper IgM syndrome
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency
Hyperargininemia see arginase deficiency
hyperbilirubinemia 1 see Gilbert syndrome
hyperbilirubinemia II see Dubin-Johnson syndrome
Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome
hypercholesterolemia
Hyperchylomicronemia, Familial see familial lipoprotein lipase deficiency
Hyperdibasic aminoaciduria see lysinuric protein intolerance
hyperekplexia see hereditary hyperekplexia
Hyperglycinemia, Nonketotic see glycine encephalopathy
hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia
hyperhistidinemia see histidinemia
hyperimidodipeptiduria see prolidase deficiency
Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
hyperimmunoglobulinemia D see mevalonate kinase deficiency
hyperinsulinemia hypoglycemia of infancy see familial hyperinsulinism
hyperkalemic periodic paralysis
hyperkeratosis, epidermolytic see epidermolytic hyperkeratosis
HyperKPP see hyperkalemic periodic paralysis
Hyperlipoproteinemia Type I see familial lipoprotein lipase deficiency
hyperlysinemia
hypermethioninemia
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome see ornithine translocase deficiency
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome see ornithine translocase deficiency
hyperornithinemia with gyrate atrophy of choroid and retina see gyrate atrophy of the choroid and retina
hyperostosis corticalis deformans juvenilis see juvenile Paget disease
hyperostosis corticalis generalisata see SOST-related sclerosing bone dysplasia
hyperotosis corticalis generalisata familiaris see SOST-related sclerosing bone dysplasia
Hyperoxaluria, Primary see primary hyperoxaluria
hyperparathyroidism-jaw tumor syndrome
Hyperparathyroidism, Primary see hyperparathyroidism-jaw tumor syndrome
hyperphenylalaninemia caused by a defect in biopterin metabolism see tetrahydrobiopterin deficiency
hyperphenylalaninemia, non-phenylketonuric see tetrahydrobiopterin deficiency
hyperphosphatasemia with bone disease see juvenile Paget disease
hyperphosphatasia, familial idiopathic see juvenile Paget disease
HyperPP see hyperkalemic periodic paralysis
hyperprolinemia
hyperprothrombinemia see prothrombin thrombophilia
Hyperpyrexia, Malignant see malignant hyperthermia
hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome
hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome
Hyperthermia, Malignant see malignant hyperthermia
Hypertyrosinemia see tyrosinemia
hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells see chylomicron retention disease
hypoceruloplasminemia see aceruloplasminemia
Hypochondrodysplasia see hypochondroplasia
hypochondrogenesis
hypochondroplasia
Hypocupremia, Congenital see Menkes syndrome
Hypogammaglobulinemia see X-linked agammaglobulinemia
Hypoglycemia
hypogonadotropic hypogonadism and anosmia see Kallmann syndrome
hypogonadotropic hypogonadism-anosmia syndrome see Kallmann syndrome
hypohidrotic ectodermal dysplasia
hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria see Gitelman syndrome
hypokalemic periodic paralysis
HypoKPP see hypokalemic periodic paralysis
hypolactasia see lactose intolerance
Hypomelia hypotrichosis facial hemangioma syndrome see Roberts syndrome
hypomyelination and congenital cataract
hypophosphatasia
hypophosphatemia see hereditary hypophosphatemic rickets
Hypopituitarism
hypoplastic congenital anemia see Diamond-Blackfan anemia
HypoPP see hypokalemic periodic paralysis
Hypoprothrombinemia see prothrombin deficiency
Hypoprothrombinemias see prothrombin deficiency
hypothalamic hamartoblastoma syndrome see Pallister-Hall syndrome
Hypotonia, obesity, and prominent incisors see Cohen syndrome
hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency see Lesch-Nyhan syndrome
I-Cell Disease see mucolipidosis II alpha/beta
I2S deficiency see mucopolysaccharidosis type II
IAHSP see infantile-onset ascending hereditary spastic paralysis
IBD deficiency see isobutyryl-CoA dehydrogenase deficiency
IBIDS see trichothiodystrophy
IBM2 see inclusion body myopathy 2
IBMPFD see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
ichthyoses, lamellar see lamellar ichthyosis
Ichthyosiform Erythroderma, Congenital
Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
Ichthyosis
Ichthyosis Congenita, Harlequin Fetus Type see harlequin ichthyosis
ichthyosis, lamellar see lamellar ichthyosis
ichthyosis oligophrenia syndrome see Sj�gren-Larsson syndrome
Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome
idiopathic hyperphosphatasia see juvenile Paget disease
idiopathic infantile nystagmus see X-linked infantile nystagmus
idiopathic inflammatory myopathy
idiopathic myelofibrosis see primary myelofibrosis
idiopathic pulmonary fibrosis
Idiopathic pulmonary hypertension see pulmonary arterial hypertension
IDUA deficiency see mucopolysaccharidosis type I
Iduronate 2-sulfatase deficiency see mucopolysaccharidosis type II
Ileitis see Crohn disease
Ileocolitis see Crohn disease
IMD2 see Wiskott-Aldrich syndrome
imidodipeptidase deficiency see prolidase deficiency
immotile cilia syndrome see primary ciliary dyskinesia
immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Immune System and Disorders
immunodeficiency 2 see Wiskott-Aldrich syndrome
immunodeficiency, common variable see common variable immune deficiency
Immunodeficiency with Hyper-IgM, type 1 see X-linked hyper IgM syndrome
immunoosseous dysplasia, Schimke type see Schimke immuno-osseous dysplasia
imperforate anus-hand and foot anomalies syndrome see Townes-Brocks Syndrome
INAD see infantile neuroaxonal dystrophy
inclusion body myopathy 2
inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Inclusion Cell Disease see mucolipidosis II alpha/beta
incontinentia pigmenti
infancy hyperinsulinemia hypoglycemia see familial hyperinsulinism
infantile genetic agranulocytosis see severe congenital neutropenia
infantile hemiplegia with porencephaly see familial porencephaly
Infantile hypercalcemia see Williams syndrome
infantile leukoencephalopathy and megalencephaly see megalencephalic leukoencephalopathy with subcortical cysts
Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
infantile neuroaxonal dystrophy
infantile-onset ascending hereditary spastic paralysis
infantile onset multisystem inflammatory disease see neonatal onset multisystem inflammatory disease
infantile-onset spinocerebellar ataxia
infantile subacute necrotizing encephalopathy see Leigh syndrome
infantile systemic hyalinosis
infantile thoracic dystrophy see asphyxiating thoracic dystrophy
Infectious Mononucleosis see X-linked lymphoproliferative disease
Infertility
inflammatory myopathy, idiopathic see idiopathic inflammatory myopathy
inherited emphysema see alpha-1 antitrypsin deficiency
inherited erythroblastopenia see Diamond-Blackfan anemia
Inherited Human Transmissible Spongiform Encephalopathies see prion disease
inherited systemic hyalinosis see infantile systemic hyalinosis; juvenile hyaline fibromatosis
inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies
inherited thyroxine-binding globulin deficiency
Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
intellectual deficit, X-linked, South African type see Christianson syndrome
interstitial deletion of chromosome 15q24 see 15q24 microdeletion
Interstitial Lung Diseases
Intestinal Cancer see gastrointestinal stromal tumor
Intestinal Obstruction
Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
intestinal pseudo-obstruction
Intracerebral Cavernous Hemangioma see cerebral cavernous malformation
intranuclear rod myopathy
inverted smile and occult neuropathic bladder see Ochoa syndrome
inverted smile-neurogenic bladder see Ochoa syndrome
IOMID syndrome see neonatal onset multisystem inflammatory disease
IOSCA see infantile-onset spinocerebellar ataxia
IP see incontinentia pigmenti
IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
IPF see idiopathic pulmonary fibrosis
IPO see intestinal pseudo-obstruction
IRAK-4 deficiency
IRAK4 deficiency see IRAK-4 deficiency
Iron see African iron overload
Iron storage disorder see hemochromatosis
iron-sulfur cluster deficiency myopathy see myopathy with deficiency of iron-sulfur cluster assembly enzyme
isobutyryl-CoA dehydrogenase deficiency
isobutyryl-coenzyme A dehydrogenase deficiency see isobutyryl-CoA dehydrogenase deficiency
isochromosome 12p syndrome see Pallister-Killian mosaic syndrome
18p isochromosome see tetrasomy 18p
Isolated deafness see nonsyndromic deafness
isolated Duane retraction syndrome
isolated growth hormone deficiency
isolated holoprosencephaly see nonsyndromic holoprosencephaly
isolated HPE see nonsyndromic holoprosencephaly
isolated methylmalonic acidemia see methylmalonic acidemia
isovaleric acidemia
Isovaleryl-CoA dehydrogenase deficiency see isovaleric acidemia
IVA see isovaleric acidemia
IVD deficiency see isovaleric acidemia
Jackson-Lawler syndrome (PC-2) see pachyonychia congenita
Jackson-Weiss syndrome
Jacob's syndrome see 47,XYY syndrome
Jacobsen syndrome
Jadassohn-Lewandowski syndrome (PC-1) see pachyonychia congenita
Jaeken syndrome see congenital disorder of glycosylation type Ia
Jarcho-Levin syndrome see spondylocostal dysostosis; spondylothoracic dysostosis
Jaundice
Jaundice, Chronic Idiopathic see Dubin-Johnson syndrome
Jaw Injuries and Disorders
JBTS see Joubert syndrome
JEB see junctional epidermolysis bullosa
Jervell and Lange-Nielsen syndrome
Jeune syndrome see asphyxiating thoracic dystrophy
Jeune thoracic dysplasia see asphyxiating thoracic dystrophy
Jeune thoracic dystrophy see asphyxiating thoracic dystrophy
JIA see juvenile idiopathic arthritis
JLNS see Jervell and Lange-Nielsen syndrome
Job syndrome
Job's Syndrome see Job syndrome
Joint Disorders
Joubert syndrome
JPD see juvenile Paget disease
JPLS see juvenile primary lateral sclerosis
JRA see juvenile idiopathic arthritis
junctional epidermolysis bullosa
junctional epidermolysis bullosa with pyloric atresia see epidermolysis bullosa with pyloric atresia
juvenile Batten disease
Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
juvenile hyaline fibromatosis
Juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
juvenile idiopathic arthritis
juvenile macular degeneration see Stargardt macular degeneration
juvenile Paget disease
juvenile polyposis syndrome
juvenile primary lateral sclerosis
Juvenile Rheumatoid Arthritis see juvenile idiopathic arthritis
juvenile subacute necrotizing encephalopathy see Leigh syndrome
juxtaglomerular hyperplasia with secondary aldosteronism see Bartter syndrome
JWS see Jackson-Weiss syndrome
Kabuki syndrome
Kallmann syndrome
Kanzaki disease see Schindler disease
Kast syndrome see Maffucci syndrome
Kaufman-McKusick syndrome see McKusick-Kaufman syndrome
Kawasaki disease
KD see Kawasaki disease; spinal and bulbar muscular atrophy
Kearns-Sayre syndrome
Keller syndrome see FG syndrome
Kennedy disease see spinal and bulbar muscular atrophy
Kennedy spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
Kerasin histiocytosis see Gaucher disease
Kerasin lipoidosis see Gaucher disease
Kerasin thesaurismosis see Gaucher disease
Keratosis Follicularis see Darier disease
Ketoacidemia see maple syrup urine disease
ketoacidosis due to SCOT deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
17-ketosteroid reductase deficiency of testis see 17-beta hydroxysteroid dehydrogenase 3 deficiency
3-Ketothiolase deficiency see beta-ketothiolase deficiency
ketotic glycinemia see propionic acidemia
ketotic hyperglycinemia see propionic acidemia
KFS see Klippel-Feil syndrome
Kidney Cancer
Kidney Diseases
Kidney Failure
Kidney Stones see cystinuria
Kinky Hair Syndrome see Menkes syndrome
Kjer type optic atrophy see optic atrophy type 1
Kjer's optic atrophy see optic atrophy type 1
Kleefstra syndrome
Klinefelter syndrome
Klinefelter's Syndrome see Klinefelter syndrome
Klippel-Feil syndrome
Klippel-Trenaunay syndrome
KMS see Kabuki syndrome
Kniest dysplasia
Knobloch syndrome
Kostmann disease see severe congenital neutropenia
Kostmann's agranulocytosis see severe congenital neutropenia
Kostmann's syndrome see severe congenital neutropenia
Krabbe disease
Krause-Kivlin syndrome see Peters plus syndrome
Krause-van Schooneveld-Kivlin syndrome see Peters plus syndrome
17-KSR deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
KSS see Kearns-Sayre syndrome
KTS see Klippel-Trenaunay syndrome
KTW syndrome see Klippel-Trenaunay syndrome
Kufs disease
Kymenlaakso syndrome see lattice corneal dystrophy type II
L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
l-arginine:glycine aminidotransferase deficiency see arginine:glycine amidinotransferase deficiency
L1 syndrome
lactate dehydrogenase deficiency
lactose intolerance
Lacunar Dementias see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Lafora Disease see Lafora progressive myoclonus epilepsy
Lafora progressive myoclonus epilepsy
Laing distal myopathy
LAL deficiency see Wolman disease
LAM see lymphangioleiomyomatosis
LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome see Carney complex
lamellar ichthyosis
Landouzy-Dejerine Dystrophy see facioscapulohumeral muscular dystrophy
Landry-Guillain-Barre syndrome see Guillain-Barr� syndrome
Langer-Giedion syndrome
Langer mesomelic dysplasia
Langerhans cell histiocytosis
Larsen syndrome
Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
Late-onset multiple carboxylase deficiency see biotinidase deficiency
Late-onset spondyloepiphyseal dysplasia see X-linked spondyloepiphyseal dysplasia tarda
lateral facial dysplasia see craniofacial microsomia
lattice corneal dystrophy type I
lattice corneal dystrophy type II
Laurence-Moon-Bardet-Biedl syndrome see Bardet-Biedl syndrome
Laurence-Moon-Biedl syndrome see Bardet-Biedl syndrome
Laurence-Moon syndrome see Bardet-Biedl syndrome
LBSL see leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
LCA see Leber congenital amaurosis
LCH see Langerhans cell histiocytosis; Leydig cell hypoplasia
LCHAD deficiency see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LDH deficiency see lactate dehydrogenase deficiency
Le Merrer syndrome see 3-M syndrome
Learning Disorders
Leber congenital amaurosis
Leber hereditary optic neuropathy
Legius syndrome
Leigh syndrome
leiomyomatosis and renal cell cancer see hereditary leiomyomatosis and renal cell cancer
Lennox-Gastaut syndrome
Lentiginosis, Perioral see Peutz-Jeghers syndrome
lentiginosis profusa see multiple lentigines syndrome
Lenz microphthalmia syndrome
LEOPARD syndrome see multiple lentigines syndrome
L�ri-Weill dyschondrosteosis
Lesch-Nyhan syndrome
leukemia, acute promyelocytic see acute promyelocytic leukemia
Leukodystrophies see Aicardi-Goutieres syndrome; Alexander disease; Canavan disease; hypomyelination and congenital cataract; Krabbe disease; leukoencephalopathy with vanishing white matter; megalencephalic leukoencephalopathy with subcortical cysts; metachromatic leukodystrophy; Pelizaeus-Merzbacher disease; X-linked adrenoleukodystrophy; Zellweger spectrum
Leukodystrophy, spongiform see Canavan disease
leukodystrophy with Rosenthal fibers see Alexander disease
leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
leukoencephalopathy with swelling and a discrepantly mild course see megalencephalic leukoencephalopathy with subcortical cysts
leukoencephalopathy with swelling and cysts see megalencephalic leukoencephalopathy with subcortical cysts
leukoencephalopathy with vanishing white matter
Lewy Body Disease see Parkinson disease
Leydig cell hypoplasia
LFS see Li-Fraumeni syndrome
LGMD see limb-girdle muscular dystrophy
LGS see Lennox-Gastaut syndrome
LH resistance due to LH receptor deactivation see Leydig cell hypoplasia
LHON see Leber hereditary optic neuropathy
LI see lamellar ichthyosis
Li-Fraumeni syndrome
limb-girdle muscular dystrophy
limit dextrinosis see glycogen storage disease type III
lip-pit syndrome see van der Woude syndrome
LIPA deficiency see Wolman disease
Lipase D deficiency see familial lipoprotein lipase deficiency
LIPD deficiency see familial lipoprotein lipase deficiency
Lipid Metabolism, Inborn Errors
lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see short-chain acyl-CoA dehydrogenase deficiency
lipid transport defect of intestine see chylomicron retention disease
lipodystrophy, congenital generalized see Berardinelli-Seip congenital lipodystrophy
lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
Lipoid histiocytosis (kerasin type) see Gaucher disease
Lipoprotein Deficiency Disease, HDL, Familial see Tangier disease
Lipoprotein Lipase Deficiency, Familial see familial lipoprotein lipase deficiency
Liposomal Acid Lipase Deficiency, Wolman Type see Wolman disease
lissencephaly and agenesis of corpus callosum see X-linked lissencephaly
lissencephaly type 1 see X-linked lissencephaly
lissencephaly, X-linked see X-linked lissencephaly
LISX see X-linked lissencephaly
Liver Diseases
liver form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase I deficiency
liver phosphorylase deficiency syndrome see glycogen storage disease type VI
LMBBS see Bardet-Biedl syndrome
LMD see Langer mesomelic dysplasia
LMS see Bardet-Biedl syndrome
LNS see Lesch-Nyhan syndrome
Loeys-Dietz syndrome
long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long QT Syndrome
Long QT syndrome 7 see Andersen-Tawil syndrome
Long QT syndrome with syndactyly see Timothy syndrome
Lou Gehrig Disease see amyotrophic lateral sclerosis
Louis-Bar syndrome see ataxia-telangiectasia
low gamma-GT familial intrahepatic cholestasis see benign recurrent intrahepatic cholestasis; progressive familial intrahepatic cholestasis
Lowe syndrome
Lower motor neuron degeneration with Paget-like bone disease see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
LPI see lysinuric protein intolerance
LQT7 see Andersen-Tawil syndrome
LQT8 see Timothy syndrome
LRCC see hereditary leiomyomatosis and renal cell cancer
LRS see Larsen syndrome
Lubag see X-linked dystonia-parkinsonism
Lubs X-linked mental retardation syndrome see MECP2 duplication syndrome
Lundborg-Unverricht syndrome see Unverricht-Lundborg disease
Lung Diseases
LVM see megalencephalic leukoencephalopathy with subcortical cysts
LWD see L�ri-Weill dyschondrosteosis
lymphangioleiomyomatosis
lymphangiomyomatosis see lymphangioleiomyomatosis
Lymphatic Diseases
Lymphedema
lymphedema-distichiasis syndrome
lymphedema praecox see Meige lymphedema
lymphedema with distichiasis see lymphedema-distichiasis syndrome
Lymphoma see X-linked lymphoproliferative disease
Lynch syndrome
lysine alpha-ketoglutarate reductase deficiency disease see hyperlysinemia
lysinuric protein intolerance
Lysosomal acid lipase deficiency see Wolman disease
lysosomal alpha B mannosidosis see alpha-mannosidosis
lysosomal alpha-D-mannosidase deficiency see alpha-mannosidosis
lysosomal beta A mannosidosis see beta-mannosidosis
lysosomal beta-mannosidase deficiency see beta-mannosidosis
lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum see Schindler disease
lysosomal glycogen storage disease with normal acid maltase see Danon disease
lysosomal protective protein deficiency see galactosialidosis
Lysosomal Storage Diseases
2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency
3-M syndrome
3MCC see 3-methylcrotonyl-CoA carboxylase deficiency
3MGA see 3-methylglutaconic aciduria
M/SCHAD deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
M3 ANLL see acute promyelocytic leukemia
MAA see Lenz microphthalmia syndrome
Machado-Joseph disease see spinocerebellar ataxia type 3
Macular Degeneration see age-related macular degeneration; Stargardt macular degeneration
macular degeneration, age-related see age-related macular degeneration
macular dystrophy with flecks, type 1 see Stargardt macular degeneration
MAD see glutaric acidemia type II
MAD deficiency see adenosine monophosphate deaminase deficiency
MADA deficiency see adenosine monophosphate deaminase deficiency
Maeda syndrome see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Maffucci syndrome
Majeed syndrome
Majewski osteodysplastic primordial dwarfism type II see microcephalic osteodysplastic primordial dwarfism type II
Malabsorption Syndromes
Male Breast Cancer see breast cancer
male hypergonadotropic hypogonadism due to LHCGR defect see Leydig cell hypoplasia
Male Infertility
Male Pattern Alopecia see androgenetic alopecia
Male Pattern Baldness see androgenetic alopecia
male pseudohermaphroditism due to 5-alpha-reductase deficiency see 5-alpha reductase deficiency
Male Turner Syndrome see Noonan syndrome
malignant hyperthermia
Malignant neoplasm of breast see breast cancer
malignant tumor of breast see breast cancer
Malignant tumor of urinary bladder see bladder cancer
malonic aciduria see malonyl-CoA decarboxylase deficiency
malonyl-CoA decarboxylase deficiency
malonyl-coenzyme A decarboxylase deficiency see malonyl-CoA decarboxylase deficiency
Mammary cancer see breast cancer
mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
Manitoba oculotrichoanal syndrome
mannose-binding lectin deficiency
mannosidosis see alpha-mannosidosis
maple syrup urine disease
marble bone disease see osteopetrosis
Marchesani syndrome see Weill-Marchesani syndrome
Marchiafava-Micheli Syndrome see paroxysmal nocturnal hemoglobinuria
Marfan syndrome
Marie-Sainton syndrome see cleidocranial dysplasia
Marie-Struempell Disease see ankylosing spondylitis
Marinesco-Garland syndrome see Marinesco-Sj�gren syndrome
Marinesco-Sj�gren syndrome
marker X syndrome see fragile X syndrome
Marles syndrome see Manitoba oculotrichoanal syndrome
Maroteaux-Lamy Syndrome see mucopolysaccharidosis type VI
Martin-Bell syndrome see fragile X syndrome
MAS see McCune-Albright syndrome
MASA syndrome see L1 syndrome
MAT deficiency see beta-ketothiolase deficiency; hypermethioninemia
matrin 3 distal myopathy see distal myopathy 2
Mayer-Rokitansky-K�ster-Hauser-like syndrome see WNT4 M�llerian aplasia and ovarian dysfunction
Mayer-Rokitansky-K�ster-Hauser syndrome
2-MBADD see 2-methylbutyryl-CoA dehydrogenase deficiency
2-MBCD deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
2-MBG see 2-methylbutyryl-CoA dehydrogenase deficiency
MBL deficiency see mannose-binding lectin deficiency
MBL2 deficiency see mannose-binding lectin deficiency
MBP deficiency see mannose-binding lectin deficiency
MCAD deficiency see medium-chain acyl-CoA dehydrogenase deficiency
MCADD see medium-chain acyl-CoA dehydrogenase deficiency
MCADH deficiency see medium-chain acyl-CoA dehydrogenase deficiency
McAlister dysplasia see atelosteogenesis type 2
McArdle disease see glycogen storage disease type V
McArdle syndrome see glycogen storage disease type V
McArdle type glycogen storage disease see glycogen storage disease type V
3-MCC see 3-methylcrotonyl-CoA carboxylase deficiency
MCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
McCune-Albright syndrome
MCD deficiency see malonyl-CoA decarboxylase deficiency
MCHS see childhood myocerebrohepatopathy spectrum
MCKD2 see uromodulin-associated kidney disease
McKusick-Kaufman syndrome
McKusick's metaphyseal chondrodysplasia syndrome see cartilage-hair hypoplasia
MCL see hereditary leiomyomatosis and renal cell cancer
McLeod neuroacanthocytosis syndrome
MCOPS1 see Lenz microphthalmia syndrome
MCOPS2 see oculofaciocardiodental syndrome
MCOPS7 see microphthalmia with linear skin defects syndrome
MCPH see autosomal recessive primary microcephaly
MCPHA see Amish lethal microcephaly
MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency see Allan-Herndon-Dudley syndrome
MCUL see hereditary leiomyomatosis and renal cell cancer
MDR3 deficiency see progressive familial intrahepatic cholestasis
MDS see Miller-Dieker syndrome
MEA see multiple endocrine neoplasia
MECP2 duplication syndrome
MECP2-related severe neonatal encephalopathy
MED see multiple epiphyseal dysplasia
mediterranean anemia see beta thalassemia
Mediterranean Fever, Familial see familial Mediterranean fever
Mediterranean myoclonic epilepsy see Unverricht-Lundborg disease
medium-chain acyl-CoA dehydrogenase deficiency
Medullary cystic kidney disease type 2 see uromodulin-associated kidney disease
MEF see familial Mediterranean fever
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
megalencephalic leukoencephalopathy with subcortical cysts
Meige lymphedema
MELAS see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
MELAS Syndrome see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
Melnick-Fraser syndrome see branchiootorenal syndrome
Melnick-Needles syndrome
membranoproliferative glomerulonephritis type II see dense deposit disease
MEMSA see myoclonic epilepsy myopathy sensory ataxia
MEN see multiple endocrine neoplasia
M�ni�re disease
Meniere's Disease see M�ni�re disease
Menkea syndrome see Menkes syndrome
Menkes syndrome
Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum see FG syndrome
mental retardation-overgrowth syndrome see Simpson-Golabi-Behmel syndrome
Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome
Mental Retardation, X-Linked
mental retardation, X-linked, with hypotonia see Allan-Herndon-Dudley syndrome
MEPOP see mitochondrial neurogastrointestinal encephalopathy disease
Meretoja syndrome see lattice corneal dystrophy type II
MERRF see myoclonic epilepsy with ragged-red fibers
MERRF Syndrome see myoclonic epilepsy with ragged-red fibers
mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type see Langer mesomelic dysplasia
mesomelic dwarfism-small genitalia syndrome see Robinow syndrome
MET see hypermethioninemia
Metabolic Disorders
metachromatic leukodystrophy
Metaphyseal chondrodysplasia, McKusick type see cartilage-hair hypoplasia
metaphyseal chondrodysplasia, recessive type see cartilage-hair hypoplasia
Metaphyseal chondrodysplasia, Shwachman type see Shwachman-Diamond syndrome
Metatropic dwarfism, type II see Kniest dysplasia
metatropic dysplasia
Metatropic dysplasia type II see Kniest dysplasia
Methemoglobinemia see methemoglobinemia, beta-globin type
methemoglobinemia, beta-globin type
2-methyl-3-hydroxybutyric aciduria see 17β-hydroxysteroid dehydrogenase type 10 deficiency
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
2-methylbutyryl-coenzyme A dehydrogenase deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
2-methylbutyryl glycinuria see 2-methylbutyryl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-coenzyme A carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
3-Methylhydroxybutyric acidemia see beta-ketothiolase deficiency
methylmalonic acidemia
Meulengracht syndrome see Gilbert syndrome
mevalonate kinase deficiency
mevalonic aciduria see mevalonate kinase deficiency
mevalonicaciduria see mevalonate kinase deficiency
MFS see Marfan syndrome
MHAM see Cowden syndrome
MHBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
MHS - Malignant hyperthermia see malignant hyperthermia
Microangiopathic hemolytic anemia see thrombotic thrombocytopenic purpura
microcephalic osteodysplastic primordial dwarfism type II
Microcephaly
microcephaly, Amish type see Amish lethal microcephaly
Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome
microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome see Feingold syndrome
microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome see Feingold syndrome
microcephaly primary hereditary see autosomal recessive primary microcephaly
microcytemia, beta type see beta thalassemia
9q34.3 microdeletion syndrome see Kleefstra syndrome
15q13.3 microdeletion
15q24 microdeletion
17q21.31 microdeletion syndrome
microphthalmia
Microphthalmia, cataracts, radiculomegaly, and septal heart defects see oculofaciocardiodental syndrome
microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
microphthalmia, syndromic 1 see Lenz microphthalmia syndrome
Microphthalmia, syndromic 2 see oculofaciocardiodental syndrome
microphthalmia with linear skin defects syndrome
microphthalmos see microphthalmia; microphthalmia with linear skin defects syndrome
Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
MIDAS syndrome see microphthalmia with linear skin defects syndrome
Migraine
Migraine with Aura see familial hemiplegic migraine
milk sugar intolerance see lactose intolerance
Miller-Dieker syndrome
Miller syndrome
Milroy disease
Minicore disease see multiminicore disease
Minicore myopathy see multiminicore disease
MIRAS see ataxia neuropathy spectrum
misalignment of the pulmonary vessels see alveolar capillary dysplasia with misalignment of pulmonary veins
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated see beta-ketothiolase deficiency
Mitochondrial acetoacetyl-CoA thiolase deficiency see beta-ketothiolase deficiency
mitochondrial aspartyl-tRNA synthetase deficiency see leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Mitochondrial Diseases
mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria see succinate-CoA ligase deficiency
mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria see succinate-CoA ligase deficiency
mitochondrial DNA depletion syndrome, hepatocerebral form see deoxyguanosine kinase deficiency
mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
Mitochondrial Myopathies
mitochondrial neurogastrointestinal encephalopathy disease
mitochondrial recessive ataxia syndrome see ataxia neuropathy spectrum
mitochondrial trifunctional protein deficiency
MJD see spinocerebellar ataxia type 3
MK see Menkes syndrome
MKS see McKusick-Kaufman syndrome
ML III see mucolipidosis III alpha/beta
ML IIIC see mucolipidosis III gamma
ML4 see mucolipidosis type IV
MLC see megalencephalic leukoencephalopathy with subcortical cysts
MLD see metachromatic leukodystrophy
MLII see mucolipidosis II alpha/beta
MLIV see mucolipidosis type IV
MLS syndrome see microphthalmia with linear skin defects syndrome
MMA see methylmalonic acidemia
MmD see multiminicore disease
MNGIE disease see mitochondrial neurogastrointestinal encephalopathy disease
MNGIE syndrome see mitochondrial neurogastrointestinal encephalopathy disease
MNK see Menkes syndrome
MNS see Melnick-Needles syndrome
M�bius sequence see Moebius syndrome
Mobius syndrome see Moebius syndrome
Moebius syndrome
Mohr-Tranebj�rg syndrome see deafness-dystonia-optic neuronopathy syndrome
molluscum fibrosum see juvenile hyaline fibromatosis
monilethrix
monocarboxylate transporter 8 (MCT8) deficiency see Allan-Herndon-Dudley syndrome
monosaccharide malabsorption see glucose-galactose malabsorption
monosomy 1p36 syndrome see 1p36 deletion syndrome
monosomy 4p see Wolf-Hirschhorn syndrome
monosomy 5p see cri-du-chat syndrome
17p11.2 monosomy see Smith-Magenis syndrome
monosomy 17q21.31 see 17q21.31 microdeletion syndrome
monosomy 22q13 see 22q13.3 deletion syndrome
monosomy X see Turner syndrome
MOPD2 see microcephalic osteodysplastic primordial dwarfism type II
MOPDII see microcephalic osteodysplastic primordial dwarfism type II
Morquio-Brailsford disease see mucopolysaccharidosis type IV
Morquio Disease see mucopolysaccharidosis type IV
Morquio Syndrome see mucopolysaccharidosis type IV
Morvan disease see hereditary sensory and autonomic neuropathy type II
Moschkowitz Disease see thrombotic thrombocytopenic purpura
MOTA see Manitoba oculotrichoanal syndrome
moth-eaten skeletal dysplasia see Greenberg dysplasia
Motor Neuron Disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis
Mount-Reback syndrome see familial paroxysmal nonkinesigenic dyskinesia
Movement Disorders
Mowat-Wilson syndrome
Moynahan syndrome see multiple lentigines syndrome
MPD1 see Laing distal myopathy
MPD2 see distal myopathy 2
MPGNII see dense deposit disease
MPRM see hereditary myopathy with early respiratory failure
MPS I see mucopolysaccharidosis type I
MPS II see mucopolysaccharidosis type II
MPS III see mucopolysaccharidosis type III
MPS IV see mucopolysaccharidosis type IV
MPS VI see mucopolysaccharidosis type VI
MPS VII see mucopolysaccharidosis type VII
MPS6 see mucopolysaccharidosis type VI
MPS7 see mucopolysaccharidosis type VII
MRI Scans see Leigh syndrome
MRKH syndrome see Mayer-Rokitansky-K�ster-Hauser syndrome
MSA see multiple system atrophy
3-MSBN see 3-M syndrome
MSS see Marinesco-Sj�gren syndrome
MSUD see maple syrup urine disease
MTMX see X-linked myotubular myopathy
MTP deficiency see mitochondrial trifunctional protein deficiency
Muckle-Wells syndrome
mucocutaneous lymph node syndrome see Kawasaki disease
mucocutaneous venous malformations see multiple cutaneous and mucosal venous malformations
mucolipidosis I see sialidosis
mucolipidosis II alpha/beta
mucolipidosis III alpha/beta
mucolipidosis III gamma
mucolipidosis type I see sialidosis
mucolipidosis type IV
mucopolysaccharidosis type I
mucopolysaccharidosis type II
mucopolysaccharidosis type III
mucopolysaccharidosis type IV
mucopolysaccharidosis type VI
mucopolysaccharidosis type VII
Mucoviscidosis see cystic fibrosis
Muenke syndrome
Mullerian aplasia see Mayer-Rokitansky-K�ster-Hauser syndrome
Mullerian aplasia and hyperandrogenism see WNT4 M�llerian aplasia and ovarian dysfunction
M�llerian duct failure see WNT4 M�llerian aplasia and ovarian dysfunction
Mullerian dysgenesis see Mayer-Rokitansky-K�ster-Hauser syndrome
Multi-Infarct Dementia see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Multi-minicore disease see multiminicore disease
Multicore disease see multiminicore disease
Multicore myopathy see multiminicore disease
multiminicore disease
Multiple acyl-CoA dehydrogenase deficiency see glutaric acidemia type II
multiple angiomas and endochondromas see Maffucci syndrome
Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
Multiple Cartilaginous Exostoses see hereditary multiple exostoses
multiple cutaneous and mucosal venous malformations
multiple cutaneous and uterine leiomyomata see hereditary leiomyomatosis and renal cell cancer
multiple cutaneous leiomyoma see hereditary leiomyomatosis and renal cell cancer
multiple endocrine neoplasia
multiple epiphyseal dysplasia
multiple FAD dehydrogenase deficiency see glutaric acidemia type II
Multiple hamartoma syndrome see Cowden syndrome
Multiple Hereditary Exostoses see hereditary multiple exostoses
multiple lentigines syndrome
Multiple Osteochondromas see hereditary multiple exostoses
Multiple osteochondromatosis see hereditary multiple exostoses
multiple pterygium syndrome
multiple system atrophy
Murray syndrome see juvenile hyaline fibromatosis
Muscle Cramps see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Muscle Disorders
muscle glycogen phosphorylase deficiency see glycogen storage disease type V
Muscle hypertrophy syndrome see myostatin-related muscle hypertrophy
muscle phosphorylase deficiency see glycogen storage disease type V
Muscular Dystrophy
Muscular dystrophy, congenital, Fukuyama type see Fukuyama congenital muscular dystrophy
Muscular dystrophy, congenital progressive, with mental retardation see Fukuyama congenital muscular dystrophy
Muscular dystrophy, congenital, with central nervous system involvement see Fukuyama congenital muscular dystrophy
muscular dystrophy, Duchenne and Becker types see Duchenne and Becker muscular dystrophy
Muscular Dystrophy, Emery-Dreifuss see Emery-Dreifuss muscular dystrophy
Muscular Dystrophy, Facioscapulohumeral see facioscapulohumeral muscular dystrophy
Muscular Dystrophy, Landouzy Dejerine see facioscapulohumeral muscular dystrophy
Muscular dystrophy, limb-girdle, with Paget disease of bone see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Muscular Dystrophy, Oculopharyngeal see oculopharyngeal muscular dystrophy
muscular dystrophy, pseudohypertrophic see Duchenne and Becker muscular dystrophy
MWS see Mowat-Wilson syndrome; Muckle-Wells syndrome
myelinosis centralis diffusa see leukoencephalopathy with vanishing white matter
Myelodysplastic Syndromes
myelofibrosis with myeloid metaplasia see primary myelofibrosis
myeloid leukemia, acute, M3 see acute promyelocytic leukemia
myeloid metaplasia see primary myelofibrosis
MYH-associated polyposis see familial adenomatous polyposis
MYH9-related disorder
MYH9RD see MYH9-related disorder
myoadenylate deaminase deficiency see adenosine monophosphate deaminase deficiency
myoclonic dystonia see myoclonus-dystonia
Myoclonic Epilepsies, Progressive
myoclonic epilepsy myopathy sensory ataxia
myoclonic epilepsy of Lafora see Lafora progressive myoclonus epilepsy
myoclonic epilepsy of Unverricht and Lundborg see Unverricht-Lundborg disease
Myoclonic epilepsy with choreoathetosis see dentatorubral-pallidoluysian atrophy
myoclonic epilepsy with ragged-red fibers
myoclonus cherry red spot syndrome see sialidosis
myoclonus-dystonia
Myoencephalopathy ragged-red fiber disease see myoclonic epilepsy with ragged-red fibers
myofibrillar myopathy
myoglobinuria due to abnormal glycolysis see myopathy with deficiency of iron-sulfur cluster assembly enzyme
Myoneurogastrointestinal encephalopathy syndrome see mitochondrial neurogastrointestinal encephalopathy disease
myopathia distalis type 2 see distal myopathy 2
myopathic limb-girdle syndrome see limb-girdle muscular dystrophy
myopathies, nemaline see nemaline myopathy
Myopathies, Structural, Congenital
Myopathy, Central Core see central core disease
myopathy due to phosphoglycerate mutase deficiency see phosphoglycerate mutase deficiency
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
myopathy, nemaline see nemaline myopathy
myopathy, proximal, with early respiratory muscle involvement see hereditary myopathy with early respiratory failure
myopathy with deficiency of iron-sulfur cluster assembly enzyme
myophosphorylase deficiency see glycogen storage disease type V
Myositis
Myositis Ossificans see fibrodysplasia ossificans progressiva
myostatin-related muscle hypertrophy
myotonia atrophica see myotonic dystrophy
myotonia congenita
myotonia dystrophica see myotonic dystrophy
Myotonic Disorders
myotonic dystrophy
myotubular myopathy see centronuclear myopathy
Myxedema, Congenital see congenital hypothyroidism
N-acetylglutamate synthase deficiency
N-acetylneuraminic acid storage disease see sialic acid storage disease
NAFD see Nager syndrome
NAGA deficiency see Schindler disease
Nager syndrome
NAGS deficiency see N-acetylglutamate synthase deficiency
NAIC see North American Indian childhood cirrhosis
Nail Diseases
nail-patella syndrome
Naito-Oyanagi disease see dentatorubral-pallidoluysian atrophy
NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome see Carney complex
NANA storage disease see sialic acid storage disease
Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
NAPB see hereditary neuralgic amyotrophy
narcolepsy
narcoleptic syndrome see narcolepsy
NARP see neuropathy, ataxia, and retinitis pigmentosa
Nasu-Hakola disease see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Nausea and Vomiting see cyclic vomiting syndrome
NB see neuroblastoma
NBCCS see Gorlin syndrome
NBIA, PLA2G6-related see infantile neuroaxonal dystrophy
NBIA1 see pantothenate kinase-associated neurodegeneration
NDI see nephrogenic diabetes insipidus
nemaline myopathy
nemaline myopathy with exclusively intranuclear rods see intranuclear rod myopathy
Nemoto disease see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
neonatal hyperinsulinism see familial hyperinsulinism
neonatal onset multisystem inflammatory disease
Neonatal osseous dysplasia 1 see atelosteogenesis type 2
nephrogenic diabetes insipidus
Neural Tube Defects
Neuralgic Amyotrophy see hereditary neuralgic amyotrophy
neuraminidase deficiency with beta-galactosidase deficiency see galactosialidosis
neuritis with brachial predilection see hereditary neuralgic amyotrophy
Neuroacanthocytosis
Neuroaxonal Dystrophy, Juvenile see infantile neuroaxonal dystrophy
Neuroaxonal dystrophy, juvenile-onset see pantothenate kinase-associated neurodegeneration
Neuroaxonal Dystrophy, Late Infantile see infantile neuroaxonal dystrophy
neuroaxonal dystrophy, Schindler type see Schindler disease
neuroblastoma
Neurodegeneration with brain iron accumulation, PLA2G6-related see infantile neuroaxonal dystrophy
Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration
neuroferritinopathy
Neurofibromatosis
neurofibromatosis type 1
neurofibromatosis type 1-like syndrome see Legius syndrome
neurofibromatosis type 2
neurogenic muscle weakness, ataxia, and retinitis pigmentosa see neuropathy, ataxia, and retinitis pigmentosa
neurohypophyseal diabetes insipidus
Neurologic Diseases
Neuromuscular Disorders
neuromyelitis optica
neuronal axonal dystrophy, Schindler type see Schindler disease
Neuronal Ceroid-Lipofuscinoses
Neuronal Cholesterol Lipidosis see Niemann-Pick disease
neuropathy, ataxia, and retinitis pigmentosa
neuropathy, giant axonal see giant axonal neuropathy
neutral 17-beta-hydroxysteroid oxidoreductase deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome
neutral lipid storage disease with myopathy
Neutropenia
Nevoid Basal Cell Carcinoma Syndrome see Gorlin syndrome
Newborn Screening
NF1 see neurofibromatosis type 1
NF2 see neurofibromatosis type 2
NFLS see Legius syndrome
NHD see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Niemann-Pick disease
Niikawa-Kuroki syndrome see Kabuki syndrome
Nijmegen breakage syndrome
NKH see glycine encephalopathy
NLSDM see neutral lipid storage disease with myopathy
Noack syndrome see Pfeiffer syndrome
NOD see dentatorubral-pallidoluysian atrophy
NOG-related-symphalangism spectrum disorder see tarsal-carpal coalition syndrome
NOMID see neonatal onset multisystem inflammatory disease
non-ketotic hyperglycinemia see glycine encephalopathy
non-phenylketonuric hyperphenylalaninemia see tetrahydrobiopterin deficiency
non-Shiga-like toxin-associated HUS see atypical hemolytic-uremic syndrome
non-Stx-HUS see atypical hemolytic-uremic syndrome
non-syndromic, non-chromosomal holoprosencephaly see nonsyndromic holoprosencephaly
non-syndromic, non-chromosomal HPE see nonsyndromic holoprosencephaly
Nonaka myopathy see inclusion body myopathy 2
nonbullous congenital ichthyosiform erythroderma
nonenteropathic HUS see atypical hemolytic-uremic syndrome
Nonketotic Hyperglycinemia see glycine encephalopathy
nonkinesigenic choreoathetosis see familial paroxysmal nonkinesigenic dyskinesia
Nonne-Milroy lymphedema see Milroy disease
nonsyndromic deafness
nonsyndromic holoprosencephaly
nonsyndromic paraganglioma
Noonan syndrome
Noonan syndrome with multiple lentigines see multiple lentigines syndrome
noradrenaline deficiency see dopamine beta-hydroxylase deficiency
norepinephrine deficiency see dopamine beta-hydroxylase deficiency
Norio syndrome see Cohen syndrome
Norrie disease
North American Indian childhood cirrhosis
NPD see Niemann-Pick disease
nucleoside phosphorylase deficiency see purine nucleoside phosphorylase deficiency
NYS1 see X-linked infantile nystagmus
Nystagmus, Congenital see X-linked infantile nystagmus
OA see ocular albinism
OAT deficiency see gyrate atrophy of the choroid and retina
OAV complex see craniofacial microsomia
OAVS see craniofacial microsomia
Obesity
obesity-hypotonia syndrome see Cohen syndrome
OCA see oculocutaneous albinism
Ochoa syndrome
ocular albinism
ocular coloboma see coloboma
ocular retraction syndrome see isolated Duane retraction syndrome
oculo-dento-digital dysplasia see oculodentodigital dysplasia
oculo-dento-osseous dysplasia see oculodentodigital dysplasia
oculo-digito-esophagoduodental (ODED) syndrome see Feingold syndrome
Oculo-facio-cardio-dental syndrome see oculofaciocardiodental syndrome
oculoauriculovertebral spectrum see craniofacial microsomia
oculocerebrorenal syndrome see Lowe syndrome
oculocutaneous albinism
Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
oculodentodigital dysplasia
oculodentoosseous dysplasia see oculodentodigital dysplasia
oculofaciocardiodental syndrome
Oculogastrointestinal muscular dystrophy see mitochondrial neurogastrointestinal encephalopathy disease
oculopharyngeal muscular dystrophy
ODD syndrome see oculodentodigital dysplasia
ODDD see oculodentodigital dysplasia
ODOD see oculodentodigital dysplasia
OFCD syndrome see oculofaciocardiodental syndrome
OFDS see oral-facial-digital syndrome
OGIMD see mitochondrial neurogastrointestinal encephalopathy disease
3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-OH 3-methyl glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Ohaha syndrome see infantile-onset spinocerebellar ataxia
OI see osteogenesis imperfecta
Okihiro syndrome see Duane-radial ray syndrome
OKS see FG syndrome
OKT deficiency see gyrate atrophy of the choroid and retina
Old Silk Route disease see Beh�et disease
Oligophrenia microphthalmus see Norrie disease
olivopontocerebellar atrophy I see spinocerebellar ataxia type 1
ONCR see renal coloboma syndrome
Ondine-Hirschsprung disease see congenital central hypoventilation syndrome
Ondine Syndrome see congenital central hypoventilation syndrome
OPCA see multiple system atrophy
OPCH see pontocerebellar hypoplasia
OPD syndrome, type 1 see otopalatodigital syndrome type 1
OPD syndrome, type 2 see otopalatodigital syndrome type 2
open spine see spina bifida
ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis see infantile-onset spinocerebellar ataxia
ophthalmoplegia, progressive external, and scoliosis see horizontal gaze palsy with progressive scoliosis
Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
Opitz G/BBB syndrome
Opitz-Kaveggia syndrome see FG syndrome
OPMD see oculopharyngeal muscular dystrophy
Oppenheim dystonia see early-onset primary dystonia
Optic Atrophy, Autosomal Dominant see optic atrophy type 1
optic atrophy type 1
optic coloboma, vesicoureteral reflux, and renal anomalies see renal coloboma syndrome
optic nerve coloboma renal syndrome see renal coloboma syndrome
optic-spinal MS see neuromyelitis optica
opticospinal MS see neuromyelitis optica
oral-facial-digital syndrome
oral-mandibular-auricular syndrome see craniofacial microsomia
ornithine aminotransferase deficiency see gyrate atrophy of the choroid and retina
ornithine-delta-aminotransferase deficiency see gyrate atrophy of the choroid and retina
ornithine keto acid aminotransferase deficiency see gyrate atrophy of the choroid and retina
ornithine transcarbamylase deficiency
ornithine translocase deficiency
Ornithinemia with gyrate atrophy see gyrate atrophy of the choroid and retina
oro-facio-digital syndrome see oral-facial-digital syndrome
orodigitofacial dysostosis see oral-facial-digital syndrome
orodigitofacial syndrome see oral-facial-digital syndrome
orofaciodigital syndrome see oral-facial-digital syndrome
Osler-Rendu Disease see hereditary hemorrhagic telangiectasia
Osler-Rendu-Weber disease see hereditary hemorrhagic telangiectasia
Osler-Vaquez disease see polycythemia vera
Osler's disease see hereditary hemorrhagic telangiectasia
OSMED see otospondylomegaepiphyseal dysplasia
osseous-oculo-dental dysplasia see oculodentodigital dysplasia
osseous Paget's disease see Paget disease of bone
osteitis deformans see Paget disease of bone
osteitis fibrosa disseminata see McCune-Albright syndrome
Osteoarthritis
osteochalasia desmalis familiaris see juvenile Paget disease
Osteochondroma
Osteochondromatosis see hereditary multiple exostoses
Osteodermia see progressive osseous heteroplasia
osteodysplastic primordial dwarfism type II see microcephalic osteodysplastic primordial dwarfism type II
osteodysplasty of Melnick and Needles see Melnick-Needles syndrome
osteoectasia with hyperphosphatasia see juvenile Paget disease
osteogenesis imperfecta
Osteoma cutis see progressive osseous heteroplasia
osteopetroses see osteopetrosis
osteopetrosis
Osteoporosis
Osteosis cutis see progressive osseous heteroplasia
Osterreicher Syndrome see nail-patella syndrome
Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
otogenic vertigo see M�ni�re disease
otomandibular dysostosis see craniofacial microsomia
otopalatodigital syndrome type 1
otopalatodigital syndrome type 2
otospondylomegaepiphyseal dysplasia
Oxalosis see primary hyperoxaluria
Oxaluria, Primary see primary hyperoxaluria
3-oxoacid CoA transferase deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
5-oxoprolinemia see glutathione synthetase deficiency
5-oxoprolinuria see glutathione synthetase deficiency
P450C11B1 deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
PA-JEB see epidermolysis bullosa with pyloric atresia
pachyonychia congenita
Paget disease of bone
Pagetoid amyotrophic lateral sclerosis see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Pagetoid neuroskeletal syndrome see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Paget's Disease of Bone see Paget disease of bone
PAH see pulmonary arterial hypertension
PAH deficiency see phenylketonuria
Pallister-Hall syndrome
Pallister-Killian mosaic syndrome
PAM see potassium-aggravated myotonia
Pancreatic Diseases
panhypopituitarism see combined pituitary hormone deficiency
pantothenate kinase-associated neurodegeneration
papillorenal syndrome see renal coloboma syndrome
Paraganglioma see hereditary paraganglioma-pheochromocytoma; nonsyndromic paraganglioma
paragangliomas 1 see hereditary paraganglioma-pheochromocytoma
paragangliomas 2 see hereditary paraganglioma-pheochromocytoma
paragangliomas 3 see hereditary paraganglioma-pheochromocytoma
paragangliomas 4 see hereditary paraganglioma-pheochromocytoma
Paralysis
Paralysis periodica paramyotonia see paramyotonia congenita
paramyotonia congenita
Parathyroid Disorders
Parkes Weber syndrome
Parkinson disease
Parkinsonian Disorders
parkinsonism with alveolar hypoventilation and mental depression see Perry syndrome
Parkinson's Disease see Parkinson disease
paroxysmal dystonic choreoathetosis see familial paroxysmal nonkinesigenic dyskinesia
paroxysmal kinesigenic choreoathetosis see familial paroxysmal kinesigenic dyskinesia
paroxysmal kinesigenic dyskinesia see familial paroxysmal kinesigenic dyskinesia
paroxysmal nocturnal hemoglobinuria
paroxysmal nonkinesigenic dyskinesia see familial paroxysmal nonkinesigenic dyskinesia
11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
partial facial palsy with urinary abnormalities see Ochoa syndrome
partial monosomy 4p see Wolf-Hirschhorn syndrome
partial monosomy 17p see Smith-Magenis syndrome
Patau syndrome see trisomy 13
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits see Char syndrome
Pattern baldness see androgenetic alopecia
paucity of interlobular bile ducts see Alagille syndrome
PBD, ZSS see Zellweger spectrum
PC deficiency see pyruvate carboxylase deficiency
PCC deficiency see propionic acidemia
PCD see primary ciliary dyskinesia
PCH see pontocerebellar hypoplasia
PD see Parkinson disease; prolidase deficiency
PDB see Paget disease of bone
PDC see familial paroxysmal nonkinesigenic dyskinesia
PDD see Camurati-Engelmann disease
PDE see pyridoxine-dependent epilepsy
PDGFRA-associated chronic eosinophilic leukemia
Pelizaeus-Merzbacher disease
Pelvic Horn Syndrome see nail-patella syndrome
Pendred syndrome
PEO see progressive external ophthalmoplegia
Pepper syndrome see Cohen syndrome
peptidase deficiency see prolidase deficiency
Periodic Disease see familial Mediterranean fever
periodic fever, Dutch type see mevalonate kinase deficiency
periodic neutropenia see cyclic neutropenia
Periodic paralysis, potassium-sensitive cardiodysrhythmic type see Andersen-Tawil syndrome
Periodic peritonitis see familial Mediterranean fever
Periodic vomiting see cyclic vomiting syndrome
Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
Peripheral Nerve Disorders
Peripheral Neurofibromatosis see neurofibromatosis type 1
periventricular heterotopia
permanent neonatal diabetes mellitus
Peroneal Muscular Atrophy see Charcot-Marie-Tooth disease
peroxisomal alanine:glyoxylate aminotransferase deficiency see primary hyperoxaluria
Peroxisomal Disorders
peroxisome biogenesis disorders, Zellweger syndrome spectrum see Zellweger spectrum
Perry syndrome
persistent hyperinsulinemia hypoglycemia of infancy see familial hyperinsulinism
persistent hyperinsulinemic hypoglycemia see familial hyperinsulinism
persistent M�llerian duct syndrome
Peters plus syndrome
Peutz-Jeghers syndrome
PFD see McCune-Albright syndrome
Pfeiffer syndrome
PFM see enlarged parietal foramina
PGA I see autoimmune polyglandular syndrome, type 1
PGAM deficiency see phosphoglycerate mutase deficiency
PGAMM deficiency see phosphoglycerate mutase deficiency
PGK deficiency see phosphoglycerate kinase deficiency
PGK1 deficiency see phosphoglycerate kinase deficiency
PHA1 see pseudohypoaldosteronism type 1
Phelan-McDermid syndrome see 22q13.3 deletion syndrome
Phenylalanine Hydroxylase Deficiency Disease see phenylketonuria
phenylketonuria
Pheochromocytoma
PHHI hypoglycemia see familial hyperinsulinism
phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome
Phosphoethanolaminuria see hypophosphatasia
phosphoglycerate kinase deficiency
phosphoglycerate mutase deficiency
phosphomannomutase 2 deficiency see congenital disorder of glycosylation type Ia
phosphoribosylpyrophosphate synthetase superactivity
PHS see Pallister-Hall syndrome; Pitt-Hopkins syndrome
phytanic acid storage disease see Refsum disease
PIBIDS see trichothiodystrophy
Piepkorn dysplasia see boomerang dysplasia
Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweym�ller syndrome
Pigmentary cirrhosis see hemochromatosis
pigmentary retinopathy see retinitis pigmentosa
Pitt-Hopkins syndrome
pituitary diabetes insipidus see neurohypophyseal diabetes insipidus
Pituitary Disorders
PJS see Peutz-Jeghers syndrome
PK deficiency see pyruvate kinase deficiency
PKAN see pantothenate kinase-associated neurodegeneration
PKD see polycystic kidney disease; pyruvate kinase deficiency
PKS see Pallister-Killian mosaic syndrome
PKU see phenylketonuria
PKWS see Parkes Weber syndrome
Platelet Disorders
platyspondylic lethal skeletal dysplasia, Torrance type
PLO-SL see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
PLOSL see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
PLSD-T see platyspondylic lethal skeletal dysplasia, Torrance type
PLSJ see juvenile primary lateral sclerosis
PMA see Charcot-Marie-Tooth disease
PMC see paramyotonia congenita
PMD see Pelizaeus-Merzbacher disease
PMDS see persistent M�llerian duct syndrome
PME see Unverricht-Lundborg disease
PME with ataxia see PRICKLE1-related progressive myoclonus epilepsy with ataxia
PMG see polymicrogyria
PMM deficiency see congenital disorder of glycosylation type Ia
PMM2-CDG see congenital disorder of glycosylation type Ia
PNDM see permanent neonatal diabetes mellitus
PNKD see familial paroxysmal nonkinesigenic dyskinesia
PNP deficiency see purine nucleoside phosphorylase deficiency
PNPO Deficiency see pyridoxal 5'-phosphate-dependent epilepsy
PNPO-Related Neonatal Epileptic Encephalopathy see pyridoxal 5'-phosphate-dependent epilepsy
POFD see McCune-Albright syndrome
POH see progressive osseous heteroplasia
Poikiloderma atrophicans and cataract see Rothmund-Thomson Syndrome
Poikiloderma Congenitale see Rothmund-Thomson Syndrome
POLIP see mitochondrial neurogastrointestinal encephalopathy disease
polycystic kidney disease
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
polycythemia vera
Polydystrophic Dwarfism see mucopolysaccharidosis type VI
Polyendocrinopathies, Autoimmune see autoimmune polyglandular syndrome, type 1
Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune see autoimmune polyglandular syndrome, type 1
Polyglandular autoimmune syndrome, type 1 see autoimmune polyglandular syndrome, type 1
Polyglandular Type I Autoimmune Syndrome see autoimmune polyglandular syndrome, type 1
polyglucosan body disease, adult form see adult polyglucosan body disease
polymicrogyria
Polymicrogyria with muscular dystrophy see Fukuyama congenital muscular dystrophy
Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction see mitochondrial neurogastrointestinal encephalopathy disease
Polyostotic Fibrous Dysplasia see McCune-Albright syndrome
Polyposis coli see familial adenomatous polyposis
Polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome
Polyposis, Intestinal, II see Peutz-Jeghers syndrome
Polyps-and-spots syndrome see Peutz-Jeghers syndrome
Pompe disease
pontocerebellar hypoplasia
popliteal pterygium syndrome
POR Deficiency see cytochrome P450 oxidoreductase deficiency
PORD see cytochrome P450 oxidoreductase deficiency
porencephaly type 1 see familial porencephaly
porphyria
porphyrin disorder see porphyria
Portuguese polyneuritic amyloidosis see transthyretin amyloidosis
Portuguese type familial amyloid neuropathy see transthyretin amyloidosis
postaxial acrofacial dysostosis (POADS) see Miller syndrome
potassium-aggravated myotonia
PPCA deficiency see galactosialidosis
PPH see pulmonary arterial hypertension
PPM-X syndrome
PPS see popliteal pterygium syndrome
PPSH see 5-alpha reductase deficiency
Prader-Labhart-Willi syndrome see Prader-Willi syndrome
Prader-Willi syndrome
preaxial acrofacial dysostosis see Nager syndrome
preaxial mandibulofacial dysostosis see Nager syndrome
Premature Ovarian Failure see blepharophimosis, ptosis, and epicanthus inversus syndrome
Presenile and senile dementia see Alzheimer disease
Presenile dementia with bone cysts see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
PRICKLE1-related progressive myoclonus epilepsy with ataxia
Prieur-Griscelli syndrome see neonatal onset multisystem inflammatory disease
primary autosomal recessive microcephaly see autosomal recessive primary microcephaly
primary blepharospasm see benign essential blepharospasm
primary carnitine deficiency
primary ciliary dyskinesia
primary erythromelalgia see erythromelalgia
Primary Hemochromatosis see hemochromatosis
primary hemophagocytic hymphohistiocytosis see familial hemophagocytic lymphohistiocytosis
Primary Hyperkalemic Periodic Paralysis see hyperkalemic periodic paralysis
primary hyperoxaluria
Primary hyperuricemia syndrome see Lesch-Nyhan syndrome
Primary Hypokalemic Periodic Paralysis see hypokalemic periodic paralysis
primary lateral sclerosis, juvenile see juvenile primary lateral sclerosis
primary myelofibrosis
primary parkinsonism see Parkinson disease
primary polycythemia see polycythemia vera
primary pulmonary hypertension see pulmonary arterial hypertension
Primary Senile Degenerative Dementia see Alzheimer disease
primary thrombocythemia see essential thrombocythemia
primary thrombocytosis see essential thrombocythemia
Primary torsion dystonia see early-onset primary dystonia
prion disease
Progeria see Hutchinson-Gilford progeria syndrome
progeria-like syndrome see Cockayne syndrome
progeroid nanism see Cockayne syndrome
progressive cardiomyopathic lentiginosis see multiple lentigines syndrome
Progressive Chorea, Chronic Hereditary (Huntington) see Huntington disease
progressive external ophthalmoplegia
progressive familial intrahepatic cholestasis
progressive muscular atrophy see spinal muscular atrophy
Progressive muscular dystrophy, oculopharyngeal type see oculopharyngeal muscular dystrophy
progressive myoclonic epilepsy see Unverricht-Lundborg disease
progressive myoclonic epilepsy 1B see PRICKLE1-related progressive myoclonus epilepsy with ataxia
progressive myoclonic epilepsy type 2 see Lafora progressive myoclonus epilepsy
progressive myoclonus epilepsy 1 see Unverricht-Lundborg disease
progressive myoclonus epilepsy, Lafora type see Lafora progressive myoclonus epilepsy
progressive myoclonus epilepsy with ataxia see PRICKLE1-related progressive myoclonus epilepsy with ataxia
Progressive myositis ossificans see fibrodysplasia ossificans progressiva
progressive osseous heteroplasia
progressive ossifying myositis see fibrodysplasia ossificans progressiva
progressive pseudorheumatoid dysplasia with hypoplastic toes see Czech dysplasia
progressive scleroderma see systemic scleroderma
progressive supranuclear palsy
progressive tapetochoroidal dystrophy see choroideremia
prolidase deficiency
proline oxidase deficiency see hyperprolinemia
prolinemia see hyperprolinemia
prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
PROP see propionic acidemia
propionic acidemia
protein C deficiency
protein S deficiency
prothrombin deficiency
prothrombin thrombophilia
PRPP synthetase overactivity see phosphoribosylpyrophosphate synthetase superactivity
PRPP synthetase superactivity see phosphoribosylpyrophosphate synthetase superactivity
PRPS1 superactivity see phosphoribosylpyrophosphate synthetase superactivity
PRS overactivity see phosphoribosylpyrophosphate synthetase superactivity
PRS superactivity see phosphoribosylpyrophosphate synthetase superactivity
PRV see polycythemia vera
PSACH see pseudoachondroplasia
Pseudo-Hurler Polydystrophy see mucolipidosis III alpha/beta; mucolipidosis III gamma
pseudo-TORCH syndrome see Aicardi-Goutieres syndrome
pseudo-Ullrich-Turner syndrome see Noonan syndrome
pseudoachondroplasia
Pseudoachondroplastic dysplasia see pseudoachondroplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome see pseudoachondroplasia
pseudocholinesterase deficiency
pseudoglioma congenita see Norrie disease
pseudohermaphroditism, male, with gynecomastia see 17-beta hydroxysteroid dehydrogenase 3 deficiency
Pseudohypoaldosteronism
pseudohypoaldosteronism type 1
pseudohypoaldosteronism type 2
pseudointestinal obstruction syndrome see intestinal pseudo-obstruction
pseudoobstructive syndrome see intestinal pseudo-obstruction
Pseudothalidomide syndrome see Roberts syndrome
pseudotoxoplasmosis syndrome see Aicardi-Goutieres syndrome
Pseudovaginal perineoscrotal hypospadias see 5-alpha reductase deficiency
pseudoxanthoma elasticum
Psoriasis see psoriatic arthritis
psoriatic arthritis
PSP see progressive supranuclear palsy
psychosine lipidosis see Krabbe disease
Psychotic Disorders see PPM-X syndrome
pterygium syndrome see multiple pterygium syndrome
PTHS see Pitt-Hopkins syndrome
pulmonary arterial hypertension
Pulmonary Embolism
Pulmonary Fibrosis
Pulmonary Hypertension
Pure gonadal dysgenesis 46,XY see Swyer syndrome
pure hereditary red cell aplasia see Diamond-Blackfan anemia
Puretic syndrome see juvenile hyaline fibromatosis
purine nucleoside phosphorylase deficiency
Purpura, Thrombocytopenic see thrombotic thrombocytopenic purpura
Purpura, Thrombotic Thrombocytopenic see thrombotic thrombocytopenic purpura
Purtilo syndrome see X-linked lymphoproliferative disease
PV see polycythemia vera
PWS see Prader-Willi syndrome
PXE see pseudoxanthoma elasticum
PYGM deficiency see glycogen storage disease type V
pyridoxal 5'-phosphate-dependent epilepsy
pyridoxamine 5-prime-phosphate oxidase deficiency see pyridoxal 5'-phosphate-dependent epilepsy
pyridoxine-5'-phosphate oxidase deficiency see pyridoxal 5'-phosphate-dependent epilepsy
Pyridoxine Dependency see pyridoxine-dependent epilepsy
pyridoxine-dependent epilepsy
pyroglutamic acidemia see glutathione synthetase deficiency
pyroglutamic aciduria see glutathione synthetase deficiency
pyrroline-5-carboxylate dehydrogenase deficiency see hyperprolinemia
pyrroline carboxylate dehydrogenase deficiency see hyperprolinemia
pyruvate carboxylase deficiency
pyruvate kinase deficiency
Pyruvate Metabolism, Inborn Errors
QSM see inclusion body myopathy 2
r(20) syndrome see ring chromosome 20 syndrome
rachischisis see spina bifida
radial aplasia-amegakaryocytic thrombocytopenia see thrombocytopenia-absent radius syndrome
Radial aplasia-thrombocytopenia syndrome see thrombocytopenia-absent radius syndrome
rapid-onset dystonia parkinsonism
Rashes
RB see retinoblastoma
RBS see Roberts syndrome
RCDP see rhizomelic chondrodysplasia punctata
RCM see familial restrictive cardiomyopathy
RCP see rhizomelic chondrodysplasia punctata
RCS see renal coloboma syndrome
RDP see rapid-onset dystonia parkinsonism
rec(8) syndrome see recombinant 8 syndrome
recessive ataxia of Beauce see autosomal recessive cerebellar ataxia type 1
Recklinghausen Disease, Nerve see neurofibromatosis type 1
recombinant 8 syndrome
recurrent familial intrahepatic cholestasis see benign recurrent intrahepatic cholestasis
Recurrent polyserositis see familial Mediterranean fever
Reed's syndrome see hereditary leiomyomatosis and renal cell cancer
Refsum disease
Reimann periodic disease see familial Mediterranean fever
6q24-related transient neonatal diabetes mellitus
REN-related kidney disease
renal carnitine transport defect see primary carnitine deficiency
renal coloboma syndrome
renal-ear-anal-radial syndrome (REAR) see Townes-Brocks Syndrome
Rendu-Osler-Weber see hereditary hemorrhagic telangiectasia
Reproductive Health
Retinal Degeneration
retinal detachment and occipital encephalocele see Knobloch syndrome
Retinal Disorders
retinitis pigmentosa
Retinitis pigmentosa-deafness syndrome see Usher syndrome
retinoblastoma
Retinoschisis see X-linked juvenile retinoschisis
Rett syndrome
rhizomelic chondrodysplasia punctata
Richardson's syndrome see progressive supranuclear palsy
Rickets see hereditary hypophosphatemic rickets
right ventricular dysplasia, arrhythmogenic see arrhythmogenic right ventricular cardiomyopathy
Riley-Day Syndrome see familial dysautonomia
Rimmed vacuole myopathy see inclusion body myopathy 2
ring chromosome 14 syndrome
ring chromosome 20 syndrome
Ring Chromosomes
rMED see multiple epiphyseal dysplasia
Roberts syndrome
Robinow syndrome
rod body disease see nemaline myopathy
rod-body myopathy see nemaline myopathy
rod-cone dystrophy see retinitis pigmentosa
rod myopathy see nemaline myopathy
RODP see rapid-onset dystonia parkinsonism
Rogers syndrome see thiamine-responsive megaloblastic anemia syndrome
Romano-Ward syndrome
Rothmund-Thomson Syndrome
RP see retinitis pigmentosa
RSH Syndrome see Smith-Lemli-Opitz syndrome
RSS see Russell-Silver syndrome
RSTS see Rubinstein-Taybi syndrome
RTS see Rett syndrome; Rothmund-Thomson Syndrome; Rubinstein-Taybi syndrome
RTT see Rett syndrome
Rubinstein-Taybi syndrome
Russell-Silver syndrome
RWS see Romano-Ward syndrome
S-adenosylhomocysteine hydrolase deficiency see hypermethioninemia
saccharopine dehydrogenase deficiency disease see hyperlysinemia
sacral agenesis see caudal regression syndrome
sacral defect with anterior meningocele see caudal regression syndrome
SADDAN
Saethre-Chotzen syndrome
Salih myopathy
San Luis Valley syndrome see recombinant 8 syndrome
Sandhoff disease
SANDO see ataxia neuropathy spectrum
Sanfilippo syndrome see mucopolysaccharidosis type III
Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome
Sarcoma family syndrome of Li and Fraumeni see Li-Fraumeni syndrome
SBCADD see 2-methylbutyryl-CoA dehydrogenase deficiency
SBLA syndrome see Li-Fraumeni syndrome
SBMA see spinal and bulbar muscular atrophy
SC phocomelia syndrome see Roberts syndrome
SC pseudothalidomide syndrome see Roberts syndrome
SC syndrome see Roberts syndrome
SCA1 see spinocerebellar ataxia type 1
SCA2 see spinocerebellar ataxia type 2
SCA3 see spinocerebellar ataxia type 3
SCA6 see spinocerebellar ataxia type 6
SCAD deficiency see short-chain acyl-CoA dehydrogenase deficiency
SCADH deficiency see short-chain acyl-CoA dehydrogenase deficiency
SCAE see myoclonic epilepsy myopathy sensory ataxia
SCAN2 see ataxia with oculomotor apraxia
SCAR1 see ataxia with oculomotor apraxia
SCD see sickle cell disease
SCDO see spondylocostal dysostosis
SCHAD deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
Scheie Syndrome see mucopolysaccharidosis type I
Schilder-Addison Complex see X-linked adrenoleukodystrophy
Schimke immuno-osseous dysplasia
Schindler disease
Schinzel-Giedion syndrome
Schwannoma, Acoustic, Bilateral see neurofibromatosis type 2
SCID due to ADA deficiency see adenosine deaminase deficiency
SCIDX1 see X-linked severe combined immunodeficiency
Scleroderma see systemic scleroderma
sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease
sclerosis tuberosa see tuberous sclerosis complex
sclerosteosis see SOST-related sclerosing bone dysplasia
Scoliosis
SCOT deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
SCS see Saethre-Chotzen syndrome
SCT see spondylocarpotarsal synostosis syndrome
SDAT see Alzheimer disease
SDS see Shwachman-Diamond syndrome
SDYS see Simpson-Golabi-Behmel syndrome
SED congenita see spondyloepiphyseal dysplasia congenita
SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
SED tarda see X-linked spondyloepiphyseal dysplasia tarda
SEDc see spondyloepiphyseal dysplasia congenita
Sedlackova syndrome see 22q11.2 deletion syndrome
Seemanova syndrome see Nijmegen breakage syndrome
Segawa syndrome, autosomal recessive see tyrosine hydroxylase deficiency
Seip syndrome see Berardinelli-Seip congenital lipodystrophy
Seitelberger disease see infantile neuroaxonal dystrophy
Seizures
selective T-cell defect see ZAP70-related severe combined immunodeficiency
SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
sensorineural deafness and male infertility
sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
sensory ataxia neuropathy dysarthria and ophthalmoplegia see ataxia neuropathy spectrum
sepiapterin reductase deficiency
septo-optic dysplasia
septooptic dysplasia see septo-optic dysplasia
Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency see adenosine deaminase deficiency
severe congenital neutropenia
severe susceptibility to EBV infection see X-linked lymphoproliferative disease
severe susceptibility to infectious mononucleosis see X-linked lymphoproliferative disease
SGBS see Simpson-Golabi-Behmel syndrome
short/branched-chain acyl-CoA dehydrogenase deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
short-chain acyl-CoA dehydrogenase deficiency
short QT syndrome
Shoulder Girdle Neuropathy see hereditary neuralgic amyotrophy
Shprintzen syndrome see 22q11.2 deletion syndrome
Shwachman-Bodian-Diamond syndrome see Shwachman-Diamond syndrome
Shwachman-Bodian syndrome see Shwachman-Diamond syndrome
Shwachman-Diamond syndrome
Shwachman syndrome see Shwachman-Diamond syndrome
Shy-Drager syndrome see multiple system atrophy
Shy-Magee Syndrome see central core disease
SI deficiency see congenital sucrase-isomaltase deficiency
sialic acid storage disease
sialidosis
Sialolipidosis see mucolipidosis type IV
sialuria
sialuria, Finnish type see sialic acid storage disease
Sickle Cell Anemia see sickle cell disease
sickle cell disease
Sickling disorder due to hemoglobin S see sickle cell disease
Siderosis see African iron overload
Siegal-Cattan-Mamou disease see familial Mediterranean fever
Silver-Russell Dwarfism see Russell-Silver syndrome
Silver-Russell syndrome see Russell-Silver syndrome
Silver syndrome
Simpson dysplasia syndrome see Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome
Simpson syndrome see Simpson-Golabi-Behmel syndrome
SIOD see Schimke immuno-osseous dysplasia
Sj�gren-Larsson syndrome
Skeleton-skin-brain syndrome see SADDAN
Skin Cancer
Skin Conditions
Skin Pigmentation Disorders
SLC6A8 deficiency see X-linked creatine deficiency
SLC6A8-related creatine transporter deficiency see X-linked creatine deficiency
Sleep Disorders
SLO syndrome see Smith-Lemli-Opitz syndrome
SLOS see Smith-Lemli-Opitz syndrome
SLS see Sj�gren-Larsson syndrome
Sly Syndrome see mucopolysaccharidosis type VII
SMA see spinal muscular atrophy
SMAD4-related juvenile polyposis see juvenile polyposis syndrome
SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
SMS see Smith-Magenis syndrome
SOD see septo-optic dysplasia
sodium channel myotonia see potassium-aggravated myotonia
Soft Tissue Sarcoma
SOST-related sclerosing bone dysplasia
SOST sclerosing bone dysplasia see SOST-related sclerosing bone dysplasia
Sotos syndrome
SOX2 anophthalmia syndrome
spasm of eyelids see benign essential blepharospasm
spastic ataxia, Charlevoix-Saguenay type see autosomal recessive spastic ataxia of Charlevoix-Saguenay
spastic ataxia of Charlevoix-Saguenay see autosomal recessive spastic ataxia of Charlevoix-Saguenay
spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis
spastic paraparesis, childhood-onset, with distal muscle wasting see Troyer syndrome
spastic paraplegia 17 see Silver syndrome
spastic paraplegia 20, autosomal recessive see Troyer syndrome
spastic paraplegia, autosomal recessive, Troyer type see Troyer syndrome
Spastic Paraplegia, Hereditary
spastic paraplegia type 2
spastic paraplegia type 3A
spastic paraplegia type 4
spastic paraplegia type 7
spastic paraplegia type 8
spastic paraplegia type 11
spastic paraplegia with amyotrophy of hands and feet see Silver syndrome
SPD see spondyloperipheral dysplasia
Speech and Communication Disorders
SPG 8 see spastic paraplegia type 8
SPG1 see L1 syndrome
SPG3A see spastic paraplegia type 3A
SPG11-related hereditary spastic paraplegia with thin corpus callosum see spastic paraplegia type 11
SPG17 see Silver syndrome
SPG20 see Troyer syndrome
spherocytic anemia see hereditary spherocytosis
spherocytosis, type 1 see hereditary spherocytosis
Spherophakia-brachymorphia syndrome see Weill-Marchesani syndrome
Sphingolipidosis, Tay-Sachs see Tay-Sachs disease
Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
Sphingomyelin lipidosis see Niemann-Pick disease
Sphingomyelinase deficiency see Niemann-Pick disease
Spielmeyer-Vogt disease see juvenile Batten disease
spina bifida
spinal and bulbar muscular atrophy
Spinal Cord Diseases
spinal muscular atrophy
spinal muscular atrophy, distal type V see distal hereditary motor neuropathy, type V
spinal muscular atrophy, distal, with upper limb predominance see distal hereditary motor neuropathy, type V
Spine Injuries and Disorders
spinocerebellar ataxia, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia
spinocerebellar ataxia type 1
spinocerebellar ataxia type 2
spinocerebellar ataxia type 3
spinocerebellar ataxia type 6
spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia
spinocerebellar ataxia with epilepsy see myoclonic epilepsy myopathy sensory ataxia
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Spondylarthritis Ankylopoietica see ankylosing spondylitis
Spondylitis ankylopoietica see ankylosing spondylitis
Spondylitis, Ankylosing see ankylosing spondylitis
Spondyloarthritis Ankylopoietica see ankylosing spondylitis
spondyloarthropathy with short third and fourth toes see Czech dysplasia
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis
spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal Dysplasia see X-linked spondyloepiphyseal dysplasia tarda
spondyloepiphyseal dysplasia congenita
spondylohumerofemoral hypoplasia see atelosteogenesis type 1
Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
spondyloperipheral dysplasia
spondylothoracic dysostosis
Spongy degeneration of central nervous system see Canavan disease
Spongy degeneration of the brain see Canavan disease
Spongy degeneration of white matter in infancy see Canavan disease
sporadic primary pulmonary hypertension see pulmonary arterial hypertension
SPR deficiency see sepiapterin reductase deficiency
sprue see celiac disease
SQTS see short QT syndrome
SRS see Russell-Silver syndrome
SSADH deficiency see succinic semialdehyde dehydrogenase deficiency
SSB syndrome see SADDAN
Stale fish syndrome see trimethylaminuria
Stargardt macular degeneration
startle syndrome see hereditary hyperekplexia
STD see spondylothoracic dysostosis
Steele-Richardson-Olszewski syndrome see progressive supranuclear palsy
Steely Hair Syndrome see Menkes syndrome
stenosis, aortic supravalvular see supravalvular aortic stenosis
stenosis, supravalvular aortic see supravalvular aortic stenosis
Steroid 5-alpha-reductase deficiency see 5-alpha reductase deficiency
steroid 11 beta hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
STGD see Stargardt macular degeneration
STHE see hereditary hyperekplexia
Stickler syndrome
stiff-baby syndrome see hereditary hyperekplexia
Stilling-Turk-Duane syndrome see isolated Duane retraction syndrome
striatonigral degeneration see multiple system atrophy
striopallidodentate calcinosis see familial idiopathic basal ganglia calcification
Stroke
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
subacute necrotizing encephalomyelopathy see Leigh syndrome
9q subtelomeric deletion syndrome see Kleefstra syndrome
succinate-CoA ligase deficiency
succinate-coenzyme A ligase deficiency see succinate-CoA ligase deficiency
succinic semialdehyde dehydrogenase deficiency
succinyl-CoA:3-ketoacid CoA transferase deficiency
succinyl-CoA:3-oxoacid CoA transferase deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
succinyl-CoA 3-oxoacid transferase deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
succinyl-CoA:acetoacetate transferase deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
succinylcholine sensitivity see pseudocholinesterase deficiency
Sudden Infant Death Syndrome see hereditary hyperekplexia
Sudden unexpected nocturnal death syndrome see Brugada syndrome
Sudden unexplained death syndrome see Brugada syndrome
SUDS see Brugada syndrome
Sulfatide Lipidosis see metachromatic leukodystrophy
Sulfatidosis see metachromatic leukodystrophy
Supernumary der(22) syndrome see Emanuel syndrome
Supernumary der(22)t(11;22) syndrome see Emanuel syndrome
Supernumary derivative 22 chromosome syndrome see Emanuel syndrome
suppurative hidradenitides see hidradenitis suppurativa
suppurative hidradenitis see hidradenitis suppurativa
supranuclear palsy, progressive see progressive supranuclear palsy
Supravalvar aortic stenosis syndrome see Williams syndrome
supravalvular aortic stenosis
Surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome
suxamethonium sensitivity see pseudocholinesterase deficiency
SVAS see supravalvular aortic stenosis
Swallowing Disorders see oculopharyngeal muscular dystrophy
Swiss cheese cartilage dysplasia see Kniest dysplasia
Swiss type amyloid polyneuropathy see transthyretin amyloidosis
Swyer syndrome
4p- syndrome see Wolf-Hirschhorn syndrome
5p- syndrome see cri-du-chat syndrome
9q- syndrome see Kleefstra syndrome
17p- syndrome see Smith-Magenis syndrome
syndromic microphthalmia-7 see microphthalmia with linear skin defects syndrome
systemic carnitine deficiency see primary carnitine deficiency
systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
Systemic hyalinosis see juvenile hyaline fibromatosis
systemic scleroderma
T2 deficiency see beta-ketothiolase deficiency
TAAD see familial thoracic aortic aneurysm and dissection
Tachycardia, Ventricular see catecholaminergic polymorphic ventricular tachycardia
Tangier disease
tapetoretinal degeneration see retinitis pigmentosa
TAR syndrome see thrombocytopenia-absent radius syndrome
tardive tibial muscular dystrophy see tibial muscular dystrophy
tarsal-carpal coalition syndrome
Taste and Smell Disorders
Tay-Sachs disease
Tay-Sachs Disease, AB Variant see GM2-gangliosidosis, AB variant
Taybi syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
TBG deficiency see inherited thyroxine-binding globulin deficiency
TCC see tarsal-carpal coalition syndrome
TCD see choroideremia
TD see Tourette syndrome
Tears see triple A syndrome
Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
11q terminal deletion disorder see Jacobsen syndrome
Teschler-Nicola/Killian syndrome see Pallister-Killian mosaic syndrome
Testicular feminization see androgen insensitivity syndrome
tetra-amelia syndrome
tetrahydrobiopterin deficiency
tetraphocomelia-cleft palate syndrome see Roberts syndrome
tetrasomy 12p, mosaic see Pallister-Killian mosaic syndrome
tetrasomy 18p
TFP deficiency see mitochondrial trifunctional protein deficiency
TH deficiency see tyrosine hydroxylase deficiency
TH-deficient DRD see tyrosine hydroxylase deficiency
Thalassemia
thalassemia, beta type see beta thalassemia
thanatophoric dysplasia
thiamine-responsive megaloblastic anemia syndrome
thoracic asphyxiant dystrophy see asphyxiating thoracic dystrophy
three-M slender-boned nanism see 3-M syndrome
three M syndrome see 3-M syndrome
thrombocytopenia-absent radius syndrome
Thrombophilia
thrombotic thrombocytopenic purpura
Thymidine phosphorylase deficiency see mitochondrial neurogastrointestinal encephalopathy disease
Thyroid Cancer see multiple endocrine neoplasia
Thyroid Diseases
tibial muscular dystrophy
Timothy syndrome
TMAU see trimethylaminuria
TMD see tibial muscular dystrophy
6q24-TNDM see 6q24-related transient neonatal diabetes mellitus
TNDM type 1 see 6q24-related transient neonatal diabetes mellitus
Toe Injuries and Disorders
tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies
Tooth Disorders
Torsion dystonia-parkinsonism, Filipino type see X-linked dystonia-parkinsonism
Total hexosaminidase deficiency see Sandhoff disease
Total HPRT deficiency see Lesch-Nyhan syndrome
Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
total lipodystrophy see Berardinelli-Seip congenital lipodystrophy
Tourette syndrome
Townes-Brocks Syndrome
Townes syndrome see Townes-Brocks Syndrome
TPA deficiency see mitochondrial trifunctional protein deficiency
Transmissible Dementias see prion disease
Transmissible Spongiform Encephalopathies see prion disease
transthyretin amyloidosis
TRAPS see tumor necrosis factor receptor-associated periodic syndrome
Treacher Collins syndrome
Tremor
tricho-rhino-phalangeal syndrome type II see Langer-Giedion syndrome
trichorhinophalangeal syndrome type II see Langer-Giedion syndrome
trichothiodystrophy
trifunctional protein deficiency, type 1 see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
trifunctional protein deficiency, type 2 see mitochondrial trifunctional protein deficiency
Triglyceride storage disease with ichthyosis see Chanarin-Dorfman syndrome
triglyceride storage disease with impaired long-chain fatty acid oxidation see Chanarin-Dorfman syndrome
trimethylaminuria
triple A syndrome
Triple H syndrome see ornithine translocase deficiency
triple symptom complex see Beh�et disease
triple X syndrome
Triplo X syndrome see triple X syndrome
trisomy 13
trisomy 18
Trisomy 21 see Down syndrome
Trisomy X see triple X syndrome
Trisomy Xq28 see MECP2 duplication syndrome
TRMA see thiamine-responsive megaloblastic anemia syndrome
Troisier-Hanot-Chauffard syndrome see hemochromatosis
Troyer syndrome
TRPS II see Langer-Giedion syndrome
true microcephaly see autosomal recessive primary microcephaly
TS see Timothy syndrome; Tourette syndrome; Turner syndrome
TSD see Tay-Sachs disease
TSEs see prion disease
TTD see trichothiodystrophy
TTP see thrombotic thrombocytopenic purpura
tuberose sclerosis see tuberous sclerosis complex
Tuberous Sclerosis see tuberous sclerosis complex
tuberous sclerosis complex
tubular hypomagnesemia-hypokalemia with hypocalcuria see Gitelman syndrome
tumor necrosis factor receptor-associated periodic syndrome
Turner-Kieser Syndrome see nail-patella syndrome
Turner-like syndrome see Noonan syndrome
Turner syndrome
Turner syndrome in female with X chromosome see Noonan syndrome
Turner's phenotype, karyotype normal see Noonan syndrome
type 1 spinocerebellar ataxia see spinocerebellar ataxia type 1
type 6 spinocerebellar ataxia see spinocerebellar ataxia type 6
type I familial amyloid polyneuropathy see transthyretin amyloidosis
type II 3β-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
type II familial amyloid polyneuropathy see transthyretin amyloidosis
type II MPGN see dense deposit disease
tyrosine hydroxylase deficiency
tyrosinemia
UCMD see Ullrich congenital muscular dystrophy
UDA syndrome see Muckle-Wells syndrome
Udd distal myopathy see tibial muscular dystrophy
Udd-Markesbery muscular dystrophy see tibial muscular dystrophy
Udd myopathy see tibial muscular dystrophy
UDP-Galactose-4-Epimerase Deficiency Disease see galactosemia
UDPglucose 4-Epimerase Deficiency Disease see galactosemia
UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
UFS see Ochoa syndrome
ULD see Unverricht-Lundborg disease
Ullrich congenital muscular dystrophy
Ullrich-Noonan syndrome see Noonan syndrome
Ullrich-Turner syndrome see Turner syndrome
UMAK see uromodulin-associated kidney disease
UMOD-related kidney disease see uromodulin-associated kidney disease
unconjugated benign bilirubinemia see Gilbert syndrome
Undifferentiated deafness see nonsyndromic deafness
unilateral intrauterine facial necrosis see craniofacial microsomia
unilateral mandibulofacial dysostosis see craniofacial microsomia
Unverricht-Lundborg disease
Urinary bladder cancer see bladder cancer
Urine and Urination see Ochoa syndrome
urofacial Ochoa's syndrome see Ochoa syndrome
urofacial syndrome see Ochoa syndrome
uromodulin-associated kidney disease
Uromodulin storage disease see uromodulin-associated kidney disease
urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
Usher syndrome
usual interstitial pneumonia see idiopathic pulmonary fibrosis
Uterine Diseases
Uterine Fibroids see hereditary leiomyomatosis and renal cell cancer
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
uveoretinal coloboma see coloboma
VACTERL association
vacuolating leukoencephalopathy see megalencephalic leukoencephalopathy with subcortical cysts
vacuolating megalencephalic leukoencephalopathy with subcortical cysts see megalencephalic leukoencephalopathy with subcortical cysts
Van Bogaert-Bertrand syndrome see Canavan disease
Van Bogaert-Scherer-Epstein Disease see cerebrotendinous xanthomatosis
van Buchem disease see SOST-related sclerosing bone dysplasia
Van der Knapp disease see megalencephalic leukoencephalopathy with subcortical cysts
van der Woude syndrome
vanishing white matter leukodystrophy see leukoencephalopathy with vanishing white matter
Vascular Diseases
Vascular Malformations
Vasculitis
vasopressin defective diabetes insipidus see neurohypophyseal diabetes insipidus
vasopressin deficiency see neurohypophyseal diabetes insipidus
vasopressin-resistant diabetes insipidus see nephrogenic diabetes insipidus
VATER association see VACTERL association
VCAN-related vitreoretinopathy see Wagner syndrome
VCFS see 22q11.2 deletion syndrome
VCPDM see distal myopathy 2
VDRR see hereditary hypophosphatemic rickets
VDWS see van der Woude syndrome
Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
Velocardiofacial syndrome see 22q11.2 deletion syndrome
veno-occlusive disease and immunodeficiency syndrome see hepatic veno-occlusive disease with immunodeficiency
ventricular dysplasia, right, arrhythmogenic see arrhythmogenic right ventricular cardiomyopathy
Ventricular pre-excitation with arrhythmia see Wolff-Parkinson-White syndrome
Ventriculo-radial syndrome see Holt-Oram syndrome
vertebral cervical fusion syndrome see Klippel-Feil syndrome
vertebral fusion with carpal coalition see spondylocarpotarsal synostosis syndrome
very long-chain acyl-CoA dehydrogenase deficiency
VHL syndrome see von Hippel-Lindau syndrome
Vision Impairment and Blindness
vitamin B6-dependent seizures see pyridoxine-dependent epilepsy
vitamin D-resistant rickets see hereditary hypophosphatemic rickets
Vitamin E Deficiency see ataxia with vitamin E deficiency
Vitamin K see X-linked chondrodysplasia punctata 1
vitelliform macular dystrophy
vitiligo
VL see megalencephalic leukoencephalopathy with subcortical cysts
VLCAD-C see very long-chain acyl-CoA dehydrogenase deficiency
VLCAD deficiency see very long-chain acyl-CoA dehydrogenase deficiency
VLCAD-H see very long-chain acyl-CoA dehydrogenase deficiency
VLDLR-associated cerebellar hypoplasia
VLDLR-CH see VLDLR-associated cerebellar hypoplasia
VLDLRCH see VLDLR-associated cerebellar hypoplasia
VMCM see multiple cutaneous and mucosal venous malformations
vocal cord and pharyngeal weakness with distal myopathy see distal myopathy 2
VODI see hepatic veno-occlusive disease with immunodeficiency
Von Bogaert-Bertrand disease see Canavan disease
Von Eulenberg's disease see paramyotonia congenita
von Gierke disease see glycogen storage disease type I
Von Hippel-Lindau Disease see von Hippel-Lindau syndrome
von Hippel-Lindau syndrome
Von Recklenhausen-Applebaum disease see hemochromatosis
von Recklinghausen Disease see neurofibromatosis type 1
von Willebrand disease
Vrolik disease see osteogenesis imperfecta
VWS see van der Woude syndrome
Waardenburg syndrome
Wagner syndrome
WAGR Complex see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
WAGR syndrome see aniridia; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
Ward-Romano Syndrome see Romano-Ward syndrome
Watson-Miller syndrome see Alagille syndrome
WBS see Williams syndrome
WD see Wilson disease
Weber-Osler see hereditary hemorrhagic telangiectasia
Weill-Marchesani syndrome
Weissenbacher-Zweym�ller syndrome
Werner syndrome
Westphall disease see hypokalemic periodic paralysis
whistling face syndrome see Freeman-Sheldon syndrome
whistling face-windmill vane hand syndrome see Freeman-Sheldon syndrome
Whitnall-Norman syndrome see Norrie disease
WHS see Wolf-Hirschhorn syndrome
Wiedemann-Beckwith syndrome (WBS) see Beckwith-Wiedemann syndrome
Wilhelmsen-Lynch disease see frontotemporal dementia with parkinsonism-17
Willi-Prader syndrome see Prader-Willi syndrome
Williams syndrome
Wilms' Tumor
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
Wilson disease
Wiskott-Aldrich syndrome
WMS see Weill-Marchesani syndrome; Williams syndrome
WNT4 M�llerian aplasia and ovarian dysfunction
Wolf-Hirschhorn syndrome
Wolff-Parkinson-White syndrome
Wolff Periodic Disease see familial Mediterranean fever
Wolfram syndrome
Wolman disease
WPW Syndrome see Wolff-Parkinson-White syndrome
WRS see Romano-Ward syndrome
WS see Werner syndrome; Williams syndrome
WZS see Weissenbacher-Zweym�ller syndrome
45,X see Turner syndrome
X-ALD see X-linked adrenoleukodystrophy
X chromosome-linked sideroblastic anemia see X-linked sideroblastic anemia
X-linked adrenal hypoplasia congenita
X-linked adrenoleukodystrophy
X-linked agammaglobulinemia
X-linked alpha-thalassemia/mental retardation syndrome see alpha thalassemia X-linked intellectual disability syndrome
X-linked chondrodysplasia punctata 1
X-linked chondrodysplasia punctata 2
X-linked complicated hereditary spastic paraplegia type 1 see L1 syndrome
X-linked congenital stationary night blindness
X-linked copper deficiency see Menkes syndrome
X-linked corpus callosum agenesis see L1 syndrome
X-linked creatine deficiency
X-linked dilated cardiomyopathy see DMD-associated dilated cardiomyopathy
X-linked dystonia-parkinsonism
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) see L1 syndrome
X-linked hyper IgM syndrome
X-linked hyperuricemia see Lesch-Nyhan syndrome
X-linked infantile nystagmus
X-linked juvenile retinoschisis
X-linked lissencephaly
X-linked lymphoproliferative disease
X-linked macrothrombocytopenia see dyserythropoietic anemia and thrombocytopenia
X-linked mental retardation and macroorchidism see fragile X syndrome
X-linked myotubular myopathy
X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome
X-linked primary hyperuricemia see Lesch-Nyhan syndrome
X linked Recessive Hereditary Spastic Paraplegia see spastic paraplegia type 2
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked sideroblastic anemia and ataxia
X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
X-linked spondyloepiphyseal dysplasia tarda
X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome
X-SCID see X-linked severe combined immunodeficiency
Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis
XDP see X-linked dystonia-parkinsonism
xeroderma pigmentosum
XLA see X-linked agammaglobulinemia
XLCM see DMD-associated dilated cardiomyopathy
XLCSNB see X-linked congenital stationary night blindness
XLDC see DMD-associated dilated cardiomyopathy
XLIS see X-linked lissencephaly
XLMR-hypotonic face syndrome see alpha thalassemia X-linked intellectual disability syndrome
XLMTM see X-linked myotubular myopathy
XLOA see ocular albinism
XLP see X-linked lymphoproliferative disease
XLSA see X-linked sideroblastic anemia
XLSA/A see X-linked sideroblastic anemia and ataxia
XMTM see X-linked myotubular myopathy
XP see xeroderma pigmentosum
XSCID see X-linked severe combined immunodeficiency
46,XX testicular disorder of sex development
47,XX,+21 see Down syndrome
XX male syndrome see 46,XX testicular disorder of sex development
XX sex reversal see 46,XX testicular disorder of sex development
47,XXX see triple X syndrome
XXX syndrome see triple X syndrome
47,XXY see Klinefelter syndrome
XXY syndrome see Klinefelter syndrome
XXY trisomy see Klinefelter syndrome
48,XXYY syndrome
XXYY syndrome see 48,XXYY syndrome
46,XY CGD see Swyer syndrome
46,XY complete gonadal dysgenesis see Swyer syndrome
46,XY disorder of sex development due to LH defects see Leydig cell hypoplasia
46, XY Disorders of Sex Development
47,XY,+21 see Down syndrome
XY pure gonadal dysgenesis see Swyer syndrome
47,XYY syndrome
XYY Karyotype see 47,XYY syndrome
XYY syndrome see 47,XYY syndrome
Y chromosome infertility
Yakut short stature syndrome see 3-M syndrome
YY syndrome see 47,XYY syndrome
ZAP70-related severe combined immunodeficiency
Zellweger spectrum
zeta-associated protein 70 deficiency see ZAP70-related severe combined immunodeficiency
Zinsser-Cole-Engman syndrome see dyskeratosis congenita
zygoauromandibular dysplasia see Treacher Collins syndrome


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