https://medlineplus.gov/ US National Library of Medicine Please follow the guidelines at "Linking to and Using Content from MedlinePlus" at https://medlineplus.gov/about/using/usingcontent/ https://medlineplus.gov/genetics/condition/ https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome 10qter deletion Chromosome 10q26 deletion syndrome Distal 10q deletion syndrome Distal deletion 10q Distal monosomy 10q Monosomy 10qter Telomeric deletion 10 Terminal chromosome 10q26 deletion syndrome https://medlineplus.gov/genetics/condition/15q11-q13-duplication-syndrome Dup15q syndrome Duplication/inversion 15q11 Idic(15) Inv dup(15) Inverted duplication 15 Isodicentric chromosome 15 Isodicentric chromosome 15 syndrome Non-distal tetrasomy 15q https://medlineplus.gov/genetics/condition/15q133-microdeletion 15q13.3 microdeletion syndrome Chromosome 15q13.3 deletion syndrome https://medlineplus.gov/genetics/condition/15q24-microdeletion 15q24 deletion 15q24 microdeletion syndrome Interstitial deletion of chromosome 15q24 https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome AUTS14A Autism, susceptibility to, 14A https://medlineplus.gov/genetics/condition/16p112-duplication 16p11.2 duplication syndrome 16p11.2 microduplication AUTS14B Autism, susceptibility to, 14B https://medlineplus.gov/genetics/condition/16p122-microdeletion 16p12.1 microdeletion Chromosome 16p12.1 deletion syndrome, 520-kb https://medlineplus.gov/genetics/condition/17-alpha-hydroxylase-17-20-lyase-deficiency 17-alpha-hydroxylase deficiency 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia Adrenal hyperplasia V Combined 17 alpha-hydroxylase/17,20-lyase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia type 5 Deficiency of steroid 17-alpha-monooxygenase https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency 17-KSR deficiency 17-beta hydroxysteroid dehydrogenase III deficiency 17-ketosteroid reductase deficiency of testis Neutral 17-beta-hydroxysteroid oxidoreductase deficiency Pseudohermaphroditism, male, with gynecomastia Testosterone 17-beta-dehydrogenase deficiency https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome 17q12 chromosomal microdeletion 17q12 microdeletion 17q12 recurrent deletion syndrome Deletion 17q12 Recurrent genomic rearrangement in chromosome 17q12 https://medlineplus.gov/genetics/condition/17q12-duplication 17q12 duplication syndrome 17q12 microduplication 17q12 microduplication syndrome 17q12 recurrent duplication Chromosome 17q12 duplication syndrome Recurrent duplication of 17q12 https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome 19p13.13 microdeletion 19p13.13 microdeletion syndrome Chromosome 19p13.13 deletion syndrome https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome Chromosome 1p36 deletion syndrome Distal monosomy 1p36 Monosomy 1p36 syndrome https://medlineplus.gov/genetics/condition/1q211-microdeletion 1q21.1 contiguous gene deletion 1q21.1 deletion Chromosome 1q21.1 deletion syndrome Chromosome 1q21.1 deletion syndrome, 1.35-Mb https://medlineplus.gov/genetics/condition/1q211-microduplication 1q21.1 duplication 1q21.1 duplication syndrome https://medlineplus.gov/genetics/condition/2-hydroxyglutaric-aciduria 2-HGA https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency CAH1 CYP21 deficiency Congenital adrenal hyperplasia 1 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome 22q11.2DS Autosomal dominant Opitz G/BBB syndrome CATCH22 Cayler cardiofacial syndrome Conotruncal anomaly face syndrome (CTAF) Deletion 22q11.2 syndrome DiGeorge syndrome Sedlackova syndrome Shprintzen syndrome VCFS Velo-cardio-facial syndrome Velocardiofacial syndrome https://medlineplus.gov/genetics/condition/22q112-duplication Chromosome 22q11.2 duplication syndrome Chromosome 22q11.2 microduplication syndrome https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome 22q13 deletion syndrome Deletion 22q13 syndrome Deletion 22q13.3 syndrome Monosomy 22q13 Phelan-McDermid syndrome https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome 2q37 microdeletion syndrome Albright hereditary osteodystrophy-like syndrome Brachydactyly-mental retardation syndrome Chromosome 2q37 deletion syndrome (disorder) Deletion 2q37 Monosomy 2q37 https://medlineplus.gov/genetics/condition/3-m-syndrome 3-MSBN Dolichospondylic dysplasia Le Merrer syndrome Three M syndrome Three-M slender-boned nanism Yakut short stature syndrome https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency 3 beta-HSD deficiency 3 beta-ol dehydrogenase deficiency 3-beta–hydroxysteroid dehydrogenase deficiency 3b-hydroxysteroid dehydrogenase deficiency 3β-HSD deficiency 3β-HSD deficiency congenital adrenal hyperplasia 3β-hydroxysteroid dehydrogenase deficiency Type II 3β-hydroxysteroid dehydrogenase deficiency https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency 3-OH 3-CH3 glutaric aciduria 3-OH 3-methyl glutaric aciduria 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency 3HMG Deficiency of hydroxymethylglutaryl-CoA lyase HMG HMG-CoA lyase deficiency Hydroxymethylglutaric aciduria https://medlineplus.gov/genetics/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Deficiency of 3-hydroxyacyl-CoA dehydrogenase HAD deficiency HADH deficiency HADHSC deficiency L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency M/SCHAD deficiency SCHAD deficiency https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency 3-MCC deficiency 3-methylcrotonylglycinuria BMCC deficiency Deficiency of methylcrotonoyl-CoA carboxylase MCC deficiency MCCD Methylcrotonyl-CoA carboxylase deficiency Methylcrotonyl-coenzyme A carboxylase deficiency https://medlineplus.gov/genetics/condition/3-methylglutaconyl-coa-hydratase-deficiency 3-MG-CoA-hydratase deficiency 3-methylglutaconic aciduria, type I AUH defect MGA, type I MGA1 MGCA1 Primary 3-methylglutaconic aciduria https://medlineplus.gov/genetics/condition/3mc-syndrome Carnevale syndrome Carnevale-Krajewska-Fischetto syndrome Craniofacial-ulnar-renal syndrome Craniosynostosis with lid anomalies Malpuech facial clefting syndrome Malpuech syndrome Michels syndrome Mingarelli syndrome OSA syndrome Oculo-skeletal-abdominal syndrome Oculopalatoskeletal syndrome Ptosis of eyelids with diastasis recti and hip dysplasia Ptosis-strabismus-rectus abdominis diastasis https://medlineplus.gov/genetics/condition/3p-deletion-syndrome 3p partial monosomy syndrome 3p- syndrome Chromosome 3, deletion 3p Chromosome 3, monosomy 3p Chromosome 3p deletion syndrome Del(3p) syndrome Deletion 3p Monosomy 3p Partial monosomy 3p https://medlineplus.gov/genetics/condition/3q29-microdeletion-syndrome 3q subtelomere deletion syndrome 3q29 deletion syndrome 3q29 recurrent deletion Chromosome 3q29 deletion syndrome Microdeletion 3q29 syndrome Monosomy 3q29 https://medlineplus.gov/genetics/condition/3q29-microduplication-syndrome 3q29 interstitial microduplication 3q29 microduplication Chromosome 3q29 duplication syndrome Microduplication 3q29 syndrome Trisomy 3q29 https://medlineplus.gov/genetics/condition/46xx-testicular-difference-of-sex-development 46,XX testicular DSD 46,XX testicular disorder of sex development XX male syndrome nonsyndromic 46,XX testicular disorder/difference of sex development https://medlineplus.gov/genetics/condition/47xyy-syndrome Jacob's syndrome XYY karyotype XYY syndrome YY syndrome https://medlineplus.gov/genetics/condition/48xxxy-syndrome XXXY males XXXY syndrome https://medlineplus.gov/genetics/condition/48xxyy-syndrome XXYY syndrome https://medlineplus.gov/genetics/condition/49xxxxy-syndrome 49,XXXXY chromosomal anomaly Chromosome XXXXY syndrome XXXXY aneuploidy XXXXY syndrome https://medlineplus.gov/genetics/condition/5-alpha-reductase-deficiency PPSH Pseudovaginal perineoscrotal hypospadias Steroid 5-alpha-reductase deficiency https://medlineplus.gov/genetics/condition/5q-minus-syndrome 5q- syndrome Chromosome 5q deletion syndrome Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelodysplastic syndrome with 5q deletion Myelodysplastic syndrome with 5q deletion syndrome Refractory macrocytic anemia due to 5q deletion https://medlineplus.gov/genetics/condition/5q313-microdeletion-syndrome Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion https://medlineplus.gov/genetics/condition/6q24-related-transient-neonatal-diabetes-mellitus 6q24-TNDM TNDM type 1 Transient neonatal diabetes mellitus 1 https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome 7q11.23 microduplication syndrome Chromosome 7q11.23 duplication Chromosome 7q11.23 duplication syndrome Dup(7)(q11.23) Somerville-Van der Aa syndrome Trisomy 7q11.23 WBS duplication syndrome Williams-Beuren region duplication syndrome https://medlineplus.gov/genetics/condition/8p11-myeloproliferative-syndrome 8p11 stem cell leukemia/lymphoma syndrome 8p11 stem cell syndrome Myeloid and lymphoid neoplasms with FGFR1 abnormalities Stem cell leukemia/lymphoma https://medlineplus.gov/genetics/condition/9q223-microdeletion 9q22 deletion syndrome 9q22.3 deletion Microdeletion 9q22.3 syndrome https://medlineplus.gov/genetics/condition/acad9-deficiency Acyl-CoA dehydrogenase 9 deficiency Deficiency of acyl-CoA dehydrogenase family member 9 Mitochondrial complex I deficiency due to ACAD9 deficiency https://medlineplus.gov/genetics/condition/adcy5-related-dyskinesia FDFM Familial dyskinesia with facial myokymia https://medlineplus.gov/genetics/condition/adnp-syndrome ADNP-related intellectual disability and autism spectrum disorder ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder HVDAS Helsmoortel-van der Aa syndrome MRD28 Mental retardation, autosomal dominant 28 https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation ALG1-CDG CDG1K CDGIk Carbohydrate deficient glycoprotein syndrome type Ik Congenital disorder of glycosylation type 1K Mannosyltransferase 1 deficiency https://medlineplus.gov/genetics/condition/alg12-congenital-disorder-of-glycosylation ALG12-CDG CDG Ig CDG1G Congenital disorder of glycosylation type 1G Congenital disorder of glycosylation type Ig https://medlineplus.gov/genetics/condition/alg6-congenital-disorder-of-glycosylation ALG6-CDG CDG syndrome type Ic CDG1C CDGIc Carbohydrate-deficient glycoprotein syndrome type Ic Carbohydrate-deficient glycoprotein syndrome type V Congenital disorder of glycosylation type Ic Glucosyltransferase 1 deficiency https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome AAS Aarskog syndrome FGDY Facio-digito-genital dysplasia Faciodigitogenital syndrome Faciogenital dysplasia https://medlineplus.gov/genetics/condition/abdominal-wall-defect Abdominal hernia Gastroschisis Hernia, abdominal Omphalocele https://medlineplus.gov/genetics/condition/abetalipoproteinemia ABL Abetalipoproteinaemia Abetalipoproteinemia neuropathy Acanthocytosis Apolipoprotein B deficiency Bassen-Kornzweig disease Bassen-Kornzweig syndrome Betalipoprotein deficiency disease Congenital betalipoprotein deficiency syndrome MTP deficiency Microsomal triglyceride transfer protein deficiency disease https://medlineplus.gov/genetics/condition/acatalasemia Acatalasia Catalase deficiency https://medlineplus.gov/genetics/condition/aceruloplasminemia Deficiency of ferroxidase Familial apoceruloplasmin deficiency Hereditary ceruloplasmin deficiency Hypoceruloplasminemia Systemic hemosiderosis due to aceruloplasminemia https://medlineplus.gov/genetics/condition/achondrogenesis achondrogenesis type IA (Houston-Harris type) achondrogenesis type IB (Fraccaro type) achondrogenesis type II (Langer-Saldino type) https://medlineplus.gov/genetics/condition/achondroplasia ACH Achondroplastic dwarfism Dwarf, achondroplastic https://medlineplus.gov/genetics/condition/achromatopsia Achromatism Rod monochromatism Total color blindness https://medlineplus.gov/genetics/condition/acrocallosal-syndrome ACLS Hallux duplication, postaxial polydactyly, and absence of corpus callosum Schinzel acrocallosal syndrome Schinzel syndrome 1 https://medlineplus.gov/genetics/condition/acromicric-dysplasia ACMICD https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy Actin filament aggregate myopathy Actin myopathy Congenital myopathy with excess of thin filaments Nemaline myopathy 3 https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome AMRF Action myoclonus-renal failure syndrome Action myoclonus–renal failure syndrome EPM4 Epilepsy, progressive myoclonic 4, with or without renal failure Familial myoclonus with renal failure Myoclonus-nephropathy syndrome Progressive myoclonus epilepsy with renal failure https://medlineplus.gov/genetics/condition/activated-pi3k-delta-syndrome APDS Immunodeficiency 14 Immunodeficiency 36 P110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency PASLI https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1 ADANE ANE1 Acute necrotizing encephalitis Autosomal dominant acute necrotizing encephalopathy IIAE3 Postinfectious acute necrotizing hemorrhagic encephalopathy Susceptibility to acute necrotizing encephalopathy Susceptibility to infection-induced acute encephalopathy Susceptibility to infection-induced acute encephalopathy 3 https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia AML M3 APL Leukemia, acute promyelocytic M3 ANLL Myeloid leukemia, acute, M3 https://medlineplus.gov/genetics/condition/adams-oliver-syndrome AOS Absence defect of limbs, scalp, and skull Aplasia cutis congenita with terminal transverse limb defects Congenital scalp defects with distal limb reduction anomalies https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency 2,8-dihydroxyadenine urolithiasis 2,8-dihydroxyadeninuria APRT deficiency DHA crystalline nephropathy https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency ADA2 deficiency Childhood-onset polyarteritis nodosa DADA2 Deficiency of ADA2 Sneddon syndrome https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency ADA deficiency ADA-Related Immune Deficiency, Adenosine Deaminase 1 Deficiency ADA-SCID ADA1 Deficiency Adenosine deaminase deficient severe combined immunodeficiency SCID due to ADA deficiency Severe combined immunodeficiency due to ADA deficiency Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency AMP deaminase deficiency Exercise-induced myopathy MAD deficiency MADA deficiency Muscle AMP deaminase deficiency Myoadenylate deaminase deficiency https://medlineplus.gov/genetics/condition/adenylosuccinate-lyase-deficiency ADSL deficiency Adenylosuccinase deficiency Succinylpurinemic autism https://medlineplus.gov/genetics/condition/adermatoglyphia ADERM ADG Absence of fingerprints Immigration delay disease https://medlineplus.gov/genetics/condition/adiposis-dolorosa Adiposalgia Adipose tissue rheumatism Anders syndrome Dercum disease Dercum's disease Dercum-Vitaut syndrome Lipomatosis dolorosa Morbus dercum https://medlineplus.gov/genetics/condition/adolescent-idiopathic-scoliosis AIS Late onset idiopathic scoliosis https://medlineplus.gov/genetics/condition/adult-polyglucosan-body-disease APBD Polyglucosan body disease, adult form https://medlineplus.gov/genetics/condition/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia ALSP Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia https://medlineplus.gov/genetics/condition/african-iron-overload African hemochromatosis African nutritional hemochromatosis African siderosis https://medlineplus.gov/genetics/condition/age-related-hearing-loss Age-related hearing impairment Deafness due to old age Hearing loss, age-related Old-aged sensorineural hearing impairment Presbyacusia Presbycusis https://medlineplus.gov/genetics/condition/age-related-macular-degeneration AMD ARMD Age-related maculopathy Macular degeneration, age-related https://medlineplus.gov/genetics/condition/aicardi-syndrome Agenesis of corpus callosum with chorioretinal abnormality Agenesis of corpus callosum with infantile spasms and ocular abnormalities Aicardi's syndrome Callosal agenesis and ocular abnormalities Chorioretinal anomalies with ACC https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome AGS Aicardi Goutieres syndrome Cree encephalitis Encephalopathy with basal ganglia calcification Familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis Pseudotoxoplasmosis syndrome https://medlineplus.gov/genetics/condition/alagille-syndrome Alagille's syndrome Alagille-Watson syndrome Arteriohepatic dysplasia (AHD) Cardiovertebral syndrome Cholestasis with peripheral pulmonary stenosis Hepatic ductular hypoplasia Hepatofacioneurocardiovertebral syndrome Paucity of interlobular bile ducts Watson-Miller syndrome https://medlineplus.gov/genetics/condition/alcohol-use-disorder Alcohol addiction Alcohol dependence Alcoholism https://medlineplus.gov/genetics/condition/aldosterone-producing-adenoma Aldosterone-secreting adenoma Aldosteronoma Conn adenoma Primary aldosteronism due to Conn adenoma https://medlineplus.gov/genetics/condition/alexander-disease ALX Alexander's disease AxD Demyelinogenic leukodystrophy Dysmyelinogenic leukodystrophy Fibrinoid degeneration of astrocytes Leukodystrophy with Rosenthal fibers https://medlineplus.gov/genetics/condition/alkaptonuria AKU Alcaptonuria Homogentisic acid oxidase deficiency Homogentisic acidura https://medlineplus.gov/genetics/condition/allan-herndon-dudley-syndrome Allan-Herndon syndrome MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency Mental retardation, X-linked, with hypotonia Monocarboxylate transporter 8 (MCT8) deficiency https://medlineplus.gov/genetics/condition/allergic-asthma Extrinsic asthma https://medlineplus.gov/genetics/condition/alopecia-areata AA Alopecia circumscripta https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Diffuse cerebral sclerosis of Schilder Progressive sclerosing poliodystrophy https://medlineplus.gov/genetics/condition/alpha-thalassemia Alpha-thalassemia Α-thalassemia https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome ATR-X syndrome ATRX syndrome Alpha thalassemia X-linked mental retardation syndrome Alpha thalassemia/mental retardation, X-linked Alpha-thalassemia X-linked mental retardation syndrome Alpha-thalassemia/mental retardation syndrome, nondeletion type X-linked alpha-thalassemia/mental retardation syndrome XLMR-hypotonic face syndrome https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency AAT AATD Alpha-1 protease inhibitor deficiency Alpha-1 related emphysema Genetic emphysema Hereditary pulmonary emphysema Inherited emphysema https://medlineplus.gov/genetics/condition/alpha-mannosidosis Alpha-D-mannosidosis Alpha-mannosidase B deficiency Alpha-mannosidase deficiency Deficiency of alpha-mannosidase Lysosomal alpha B mannosidosis Lysosomal alpha-D-mannosidase deficiency Mannosidosis https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-deficiency AMACR deficiency https://medlineplus.gov/genetics/condition/alport-syndrome Congenital hereditary hematuria Hematuria-nephropathy-deafness syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic hereditary nephritis Hereditary familial congenital hemorrhagic nephritis Hereditary hematuria syndrome Hereditary interstitial pyelonephritis Hereditary nephritis https://medlineplus.gov/genetics/condition/alstrom-syndrome ALMS Alstrom syndrome Alstrom-Hallgren syndrome https://medlineplus.gov/genetics/condition/alternating-hemiplegia-of-childhood Alternating hemiplegia syndrome https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins ACD ACD/MPV ACDMPV Alveolar capillary dysplasia Congenital alveolar capillary dysplasia Familial persistent pulmonary hypertension of the newborn Misalignment of the pulmonary vessels https://medlineplus.gov/genetics/condition/alzheimers-disease AD Alzheimer dementia (AD) Alzheimer disease Alzheimer sclerosis Alzheimer syndrome Alzheimer-type dementia (ATD) DAT Familial Alzheimer disease (FAD) Presenile and senile dementia Primary senile degenerative dementia SDAT https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta AI Congenital enamel hypoplasia https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency ACY1D Deficiency of the aminoacylase-1 enzyme https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly Amish microcephaly MCPHA Microcephaly, Amish type https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis ALS Amyotrophic lateral sclerosis with dementia Charcot disease Dementia with amyotrophic lateral sclerosis Lou Gehrig disease Motor neuron disease, amyotrophic lateral sclerosis https://medlineplus.gov/genetics/condition/anauxetic-dysplasia AD Spondylometaepiphyseal dysplasia, Menger type Spondylometaepiphyseal dysplasia, anauxetic type https://medlineplus.gov/genetics/condition/andermann-syndrome ACCPN Agenesis of corpus callosum with neuronopathy Agenesis of corpus callosum with peripheral neuropathy Agenesis of corpus callosum with polyneuropathy Charlevoix disease HMSN/ACC Hereditary motor and sensory neuropathy with agenesis of the corpus callosum https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome ATS Andersen syndrome LQT7 Long QT syndrome 7 https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome AIS AR deficiency Androgen receptor deficiency Androgen resistance syndrome DHTR deficiency Dihydrotestosterone receptor deficiency https://medlineplus.gov/genetics/condition/androgenetic-alopecia Androgenic alopecia Female pattern baldness Female-pattern hair loss Male pattern alopecia Male pattern hair loss Male-pattern baldness Pattern baldness https://medlineplus.gov/genetics/condition/anencephaly Anencephalia Anencephalus Aprosencephaly Congenital absence of brain https://medlineplus.gov/genetics/condition/angelman-syndrome AS https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency EDA-ID Ectodermal dysplasia, hypohidrotic, with immune deficiency HED-ID Hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immune deficiency https://medlineplus.gov/genetics/condition/aniridia Absent iris Congenital aniridia Irideremia https://medlineplus.gov/genetics/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome AEC syndrome Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome Hay-Wells syndrome https://medlineplus.gov/genetics/condition/ankylosing-spondylitis Bechterew disease Marie-Struempell disease SpA Spondylarthritis ankylopoietica Spondylitis ankylopoietica Spondyloarthritis ankylopoietica axial spondylarthritis spondyloarthritis https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome Cardiac arrhythmia, ankyrin-B-related https://medlineplus.gov/genetics/condition/anonychia-congenita Absent nails Anonychia Aplastic nails Congenital absence of nails Hyponychia congenita https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome Anti-phospholipid syndrome Antiphospholipid antibody syndrome Hughes syndrome https://medlineplus.gov/genetics/condition/apert-syndrome Acrocephalosyndactyly Acrocephalosyndactyly type I Apert's syndrome Type I acrocephalosyndactyly https://medlineplus.gov/genetics/condition/arginase-deficiency ARG1 deficiency Arginase deficiency disease Argininemia Hyperargininemia https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency Central diabetes insipidus Diabetes insipidus secondary to vasopressin deficiency Diabetes insipidus, central Diabetes insipidus, neurogenic Diabetes insipidus, neurohypophyseal Diabetes insipidus, pituitary Neurohypophyseal diabetes insipidus Pituitary diabetes insipidus Vasopressin defective diabetes insipidus Vasopressin deficiency https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance ADH-resistant diabetes insipidus Congenital nephrogenic diabetes insipidus Diabetes insipidus renalis Diabetes insipidus, nephrogenic NDI Nephrogenic diabetes insipidus Vasopressin-resistant diabetes insipidus https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency AGAT deficiency Cerebral creatine deficiency syndrome 3 Creatine deficiency syndrome due to AGAT deficiency GATM deficiency L-arginine:glycine amidinotransferase deficiency L-arginine:glycine aminidotransferase deficiency https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria ASA ASAuria ASL deficiency Argininosuccinate lyase deficiency Argininosuccinic acidemia Argininosuccinicaciduria Argininosuccinyl-CoA lyase deficiency Arginosuccinase deficiency https://medlineplus.gov/genetics/condition/aromatase-deficiency 46,XX disorder of sex development (DSD) due to placental aromatase deficiency Estrogen synthetase deficiency Oestrogen synthetase deficiency Placental aromatase deficiency https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome AEXS Familial gynecomastia due to increased aromatase activity Hereditary gynecomastia Increased aromatase activity https://medlineplus.gov/genetics/condition/aromatic-l-amino-acid-decarboxylase-deficiency AADC deficiency AADCD DDC deficiency Dopa decarboxylase deficiency https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy ARVC ARVD ARVD/C Arrhythmogenic right ventricular cardiomyopathy-dysplasia Arrhythmogenic right ventricular dysplasia Arrhythmogenic right ventricular dysplasia/cardiomyopathy Right ventricular dysplasia, arrhythmogenic Ventricular dysplasia, right, arrhythmogenic https://medlineplus.gov/genetics/condition/arterial-tortuosity-syndrome ATS Arterial tortuosity https://medlineplus.gov/genetics/condition/arts-syndrome Ataxia, fatal X-linked, with deafness and loss of vision Ataxia-deafness-optic atrophy, lethal https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency ASNS deficiency ASNSD Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Disorder of asparagine metabolism https://medlineplus.gov/genetics/condition/aspartylglucosaminuria AGA deficiency Aspartylglucosamidase deficiency Aspartylglucosaminidase deficiency Aspartylglycosaminuria Glycosylasparaginase deficiency https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy ATD Asphyxiating thoracic chondrodystrophy Asphyxiating thoracic dysplasia Chondroectodermal dysplasia-like syndrome Infantile thoracic dystrophy Jeune syndrome Jeune thoracic dysplasia Jeune thoracic dystrophy Thoracic asphyxiant dystrophy Thoracic-pelvic-phalangeal dystrophy https://medlineplus.gov/genetics/condition/ataxia-neuropathy-spectrum ANS MIRAS Mitochondrial recessive ataxia syndrome SANDO Sensory ataxia neuropathy dysarthria and ophthalmoplegia https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia Adult onset ataxia with oculomotor apraxia EAOH Early-onset ataxia with ocular motor apraxia and hypoalbuminemia SCAN2 SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency AVED Ataxia with isolated vitamin E deficiency FIVE Familial isolated vitamin E deficiency Friedreich ataxia phenotype with selective vitamin E deficiency Friedreich-like ataxia https://medlineplus.gov/genetics/condition/ataxia-pancytopenia-syndrome ATXPC Myelocerebellar disorder https://medlineplus.gov/genetics/condition/ataxia-telangiectasia A-T ATM Ataxia telangiectasia syndrome Louis-Bar syndrome Telangiectasia, cerebello-oculocutaneous https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 AOI Atelosteogenesis type I Giant cell chondrodysplasia Spondylohumerofemoral hypoplasia https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2 AO2 Atelosteogenesis de la Chapelle type Atelosteogenesis, type 2 De la Chapelle dysplasia McAlister dysplasia Neonatal osseous dysplasia 1 https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3 AOIII Atelosteogenesis type III https://medlineplus.gov/genetics/condition/atopic-dermatitis Atopic eczema https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder ADD ADDH ADHD Attention deficit Attention deficit disorder Attention deficit disorder of childhood with hyperactivity Attention deficit disorder with hyperactivity Attention deficit disorder with hyperactivity syndrome Attention deficit hyperactivity disorder Hyperkinetic disorder Hyperkinetic syndrome https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome AHUS Non-Shiga-like toxin-associated HUS Non-Stx-HUS Nonenteropathic HUS https://medlineplus.gov/genetics/condition/au-kline-syndrome Okamoto syndrome https://medlineplus.gov/genetics/condition/auriculo-condylar-syndrome Auriculocondylar syndrome Dysgnathia complex Question-mark ear syndrome https://medlineplus.gov/genetics/condition/autism-spectrum-disorder ASD Autistic continuum Pervasive developmental disorder https://medlineplus.gov/genetics/condition/autoimmune-addison-disease Autoimmune Addison's disease Autoimmune adrenalitis Classic Addison disease Primary Addison disease https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome ALPS Canale-Smith syndrome https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy AIRE deficiency APECED APS type 1 APS1 Autoimmune polyendocrinopathy syndrome type 1 Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy Autoimmune polyglandular syndrome, type 1 PGA I Polyglandular autoimmune syndrome, type 1 Polyglandular type I autoimmune syndrome https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy ADCA-DN syndrome ADCADN Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant https://medlineplus.gov/genetics/condition/autosomal-dominant-congenital-stationary-night-blindness AdCSNB CSNBAD Night blindness, congenital stationary, autosomal dominant https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features ADEAF ADLTE ADPEAF Autosomal dominant lateral temporal lobe epilepsy Autosomal dominant partial epilepsy with auditory features ETL1 Epilepsy, partial, with auditory features https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome AD-HIES Autosomal dominant HIES Autosomal dominant Job syndrome Autosomal dominant hyper-IgE recurrent infection syndrome Autosomal dominant hyperimmunoglobulin E recurrent infection syndrome Buckley syndrome Job syndrome Job's syndrome Job-Buckley syndrome STAT3 deficiency STAT3-deficient hyper IgE syndrome https://medlineplus.gov/genetics/condition/autosomal-dominant-hypocalcemia ADH Autosomal dominant hypoparathyroidism Familial hypercalciuric hypocalcemia Familial hypocalcemia https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease ADLD Adult-onset autosomal dominant leukodystrophy with autonomic symptoms Autosomal dominant adult-onset demyelinating leukodystrophy LMNB1-related adult-onset autosomal dominant leukodystrophy https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy ADNFLE https://medlineplus.gov/genetics/condition/autosomal-dominant-optic-atrophy-and-cataract Autosomal dominant optic atrophy type 3 OPA3 OPA3, autosomal dominant Optic atrophy and cataract, autosomal dominant Optic atrophy type 3 Optic atrophy, cataract, and neurologic disorder https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod ADMCKD2 ADTKD-UMOD ADTKD1 Autosomal dominant medullary cystic kidney disease 2 Autosomal dominant tubulointerstitial kidney disease 1 Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation FJHN Familial juvenile gouty nephropathy Familial juvenile hyperuricemic nephropathy 1 Glomerulocystic kidney disease with hyperuricemia and isosthenuria HNFJ1 MCKD2 Medullary cystic kidney disease type 2 UAKD UMOD kidney disease UMOD-related ADTKD UMOD-related autosomal dominant tubulointerstitial kidney disease Uromodulin-associated kidney disease https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy ADVIRC Vitreoretinochoroidopathy dominant Vitreoretinochoroidopathy with microcornea, glaucoma, and cataract Vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos https://medlineplus.gov/genetics/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia ARAN-NM Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia Autosomal recessive neuromyotonia and axonal neuropathy Gamstorp-Wohlfart syndrome Myokymia, myotonia, and muscle wasting NMAN https://medlineplus.gov/genetics/condition/autosomal-recessive-cerebellar-ataxia-type-1 ARCA1 Autosomal recessive spinocerebellar ataxia 8 Recessive ataxia of Beauce https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia Chronic familial methemoglobin reductase deficiency Congenital NADH-methemoglobin reductase deficiency Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency Cytochrome b5 reductase deficiency Deficiency of cytochrome-b5 reductase Diaphorase deficiency NADH-CYB5R deficiency NADH-cytochrome b5 reductase deficiency https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-stationary-night-blindness Autosomal recessive complete congenital stationary night blindness Autosomal recessive incomplete congenital stationary night blindness https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis AH Autosomal recessive localized hypotrichosis Autosomal recessive woolly hair with or without hypotrichosis HTL Hypotrichoses Hypotrichosis LAH Total hypotrichosis, Mari type https://medlineplus.gov/genetics/condition/autosomal-recessive-primary-microcephaly MCPH Microcephaly primary hereditary Primary autosomal recessive microcephaly True microcephaly https://medlineplus.gov/genetics/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay ARSACS Charlevoix-Saguenay spastic ataxia Spastic ataxia of Charlevoix-Saguenay Spastic ataxia, Charlevoix-Saguenay type https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome ARS AXRA AXRS Axenfeld and Rieger anomaly Axenfeld anomaly Axenfeld syndrome Rieger anomaly Rieger syndrome https://medlineplus.gov/genetics/condition/bap1-tumor-predisposition-syndrome BAP1-TPDS BAP1-related tumor predisposition syndrome COMMON syndrome Cutaneous/ocular melanoma, atypical melanocytic proliferations, and other internal neoplasms https://medlineplus.gov/genetics/condition/baller-gerold-syndrome BGS Craniosynostosis with radial defects Craniosynostosis-radial aplasia syndrome https://medlineplus.gov/genetics/condition/bannayan-riley-ruvalcaba-syndrome BRRS BZS Bannayan-Ruvalcaba-Riley syndrome Bannayan-Zonana syndrome Myhre-Riley-Smith syndrome Riley-Smith syndrome Ruvalcaba-Myhre syndrome Ruvalcaba-Myhre-Smith syndrome https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome BRWS Cerebro-frontofacial syndrome, type 3 Fryns-Aftimos syndrome Iris coloboma with ptosis, hypertelorism, and mental retardation https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome BBS https://medlineplus.gov/genetics/condition/bare-lymphocyte-syndrome-type-i HLA class I deficiency https://medlineplus.gov/genetics/condition/bare-lymphocyte-syndrome-type-ii BLS type II Bare lymphocyte syndrome type 2 MHC class II deficiency Major histocompatibility complex class II deficiency SCID due to absence of class II HLA antigens SCID, HLA class 2-negative SCID, HLA class II-negative Severe combined immunodeficiency due to absent class II human leukocyte antigens Severe combined immunodeficiency, HLA class II-negative https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome Knuckle pads, deafness, and leukonychia syndrome Knuckle pads, leukonychia, and sensorineural deafness https://medlineplus.gov/genetics/condition/barth-syndrome 3 methylglutaconic aciduria, type II 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria DNAJC19 defect MGA type 2 MGA type II https://medlineplus.gov/genetics/condition/bartter-syndrome Aldosteronism with hyperplasia of the adrenal cortex Bartter disease Bartter's syndrome Juxtaglomerular hyperplasia with secondary aldosteronism https://medlineplus.gov/genetics/condition/beare-stevenson-cutis-gyrata-syndrome Cutis gyrata syndrome of Beare and Stevenson Cutis gyrata syndrome of Beare-Stevenson https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome BWS Wiedemann-Beckwith syndrome (WBS) https://medlineplus.gov/genetics/condition/behcet-disease Adamantiades-Behcet disease Behcet disease Behcet syndrome Behcet triple symptom complex Behcet's syndrome Malignant aphthosis Old Silk Route disease Triple symptom complex https://medlineplus.gov/genetics/condition/benign-essential-blepharospasm Essential blepharospasm Eyelid twitching Primary blepharospasm Spasm of eyelids https://medlineplus.gov/genetics/condition/benign-familial-neonatal-seizures BFNE BFNS Benign familial neonatal convulsions Benign familial neonatal epilepsy Benign neonatal convulsions Benign neonatal epilepsy https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis ABCB11-related intrahepatic cholestasis ATP8B1-related intrahepatic cholestasis BRIC Low gamma-GT familial intrahepatic cholestasis Recurrent familial intrahepatic cholestasis https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome BDPLT1 BSS Bleeding disorder, platelet-type, 1 Deficiency of platelet glycoprotein 1b Giant platelet syndrome Glycoprotein Ib, platelet, deficiency of Hemorrhagioparous thrombocytic dystrophy Macrothrombocytopenia, familial Bernard-Soulier type Platelet glycoprotein Ib deficiency Von Willebrand factor receptor deficiency https://medlineplus.gov/genetics/condition/beta-thalassemia Erythroblastic anemia Mediterranean anemia Thalassemia, beta type https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency 2-methyl-3-hydroxybutyricacidemia 2-methylacetoacetyl-coenzyme A thiolase deficiency 3-alpha-oxothiolase deficiency 3-ketothiolase deficiency 3-oxothiolase deficiency Alpha-methylacetoacetic aciduria MAT deficiency Methylacetoacetyl-coenzyme A thiolase deficiency Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated Mitochondrial acetoacetyl-CoA thiolase deficiency T2 deficiency Β-ketothiolase deficiency https://medlineplus.gov/genetics/condition/beta-mannosidosis Beta-D-mannosidosis Beta-mannosidase deficiency Lysosomal beta A mannosidosis Lysosomal beta-mannosidase deficiency https://medlineplus.gov/genetics/condition/beta-propeller-protein-associated-neurodegeneration BPAN NBIA5 Neurodegeneration with brain iron accumulation 5 SENDA Static encephalopathy of childhood with neurodegeneration in adulthood https://medlineplus.gov/genetics/condition/beta-ureidopropionase-deficiency Beta-alanine synthase deficiency Deficiency of beta-ureidopropionase https://medlineplus.gov/genetics/condition/bietti-crystalline-dystrophy BCD Bietti crystalline corneoretinal dystrophy Bietti crystalline retinopathy Bietti tapetoretinal degeneration with marginal corneal dystrophy https://medlineplus.gov/genetics/condition/biotin-thiamine-responsive-basal-ganglia-disease BBGD BTBGD Biotin-responsive basal ganglia disease THMD2 Thiamine metabolism dysfunction syndrome 2 Thiamine transporter-2 deficiency Thiamine-responsive encephalopathy https://medlineplus.gov/genetics/condition/biotinidase-deficiency BIOT BTD deficiency Carboxylase deficiency, multiple, late-onset Late-onset biotin-responsive multiple carboxylase deficiency Late-onset multiple carboxylase deficiency Multiple carboxylase deficiency, late-onset https://medlineplus.gov/genetics/condition/bipolar-disorder Bipolar affective disorder Bipolar affective psychosis Bipolar spectrum disorder Depression, bipolar Manic depressive illness https://medlineplus.gov/genetics/condition/birt-hogg-dube-syndrome BHD Fibrofolliculomas with trichodiscomas and acrochordons Hornstein-Birt-Hogg-Dubé syndrome Hornstein-Knickenberg syndrome https://medlineplus.gov/genetics/condition/bjornstad-syndrome BJS Bjornstad syndrome Deafness and pili torti, Bjornstad type PTD Pili torti and nerve deafness Pili torti-deafness syndrome Pili torti-sensorineural hearing loss https://medlineplus.gov/genetics/condition/bladder-cancer Bladder carcinoma urinary Bladder tumor Cancer of the urinary bladder Cancer, bladder Cancer, urinary bladder Malignant bladder neoplasm Malignant bladder tumor Neoplasm of the bladder Neoplasm of the urinary bladder Tumor of the urinary bladder Urinary bladder carcinoma Urinary bladder neoplasm https://medlineplus.gov/genetics/condition/blau-syndrome Arthrocutaneouveal granulomatosis Early-onset sarcoidosis Familial granulomatosis, Blau type Familial juvenile systemic granulomatosis Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial Pediatric granulomatous arthritis https://medlineplus.gov/genetics/condition/blepharocheilodontic-syndrome BCD syndrome BCDS Blepharo-cheilo-dontic syndrome Blepharo-cheilo-odontic syndrome Clefting, ectropion, and conical teeth Ectropion, inferior, with cleft lip and/or palate Elschnig syndrome Lagophthalmia with bilateral cleft lip and palate https://medlineplus.gov/genetics/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome BPES Blepharophimosis syndrome Blepharophimosis, ptosis, and epicanthus inversus https://medlineplus.gov/genetics/condition/bloom-syndrome Bloom's syndrome Bloom-Torre-Machacek syndrome Congenital telangiectatic erythema https://medlineplus.gov/genetics/condition/bohring-opitz-syndrome BOPS BOS Bohring syndrome C-like syndrome Oberklaid-Danks syndrome Opitz trigonocephaly-like syndrome https://medlineplus.gov/genetics/condition/boomerang-dysplasia Piepkorn dysplasia https://medlineplus.gov/genetics/condition/bosma-arhinia-microphthalmia-syndrome Arhinia choanal atresia microphthalmia Arhinia, choanal atresia, and microphthalmia Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism BAM syndrome BAMS Bosma syndrome Gifford-Bosma syndrome Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Ruprecht Majewski syndrome https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome BNHS BNS Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome Chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy https://medlineplus.gov/genetics/condition/bowen-conradi-syndrome BWCNS Bowen Hutterite syndrome Bowen syndrome, Hutterite type Bowen-Conradi Hutterite syndrome Hutterite syndrome https://medlineplus.gov/genetics/condition/bradyopsia PERRS Prolonged electroretinal response suppression https://medlineplus.gov/genetics/condition/brain-lung-thyroid-syndrome BLT syndrome Brain-thyroid-lung syndrome CAHTP Choreoathetosis, hypothyroidism, and neonatal respiratory distress Chreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction https://medlineplus.gov/genetics/condition/branchio-oculo-facial-syndrome BOFS Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging Hemangiomatous branchial clefts-lip pseudocleft syndrome Lip pseudocleft-hemagiomatous branchial cyst syndrome https://medlineplus.gov/genetics/condition/branchiootorenal-branchiootic-syndrome BO syndrome BOR BOR syndrome BOS Branchio-oto-renal syndrome Branchio-otorenal dysplasia Branchio-otorenal syndrome Branchiootic syndrome Branchiootorenal dysplasia Branchiootorenal spectrum disorders Branchiootorenal syndrome Melnick-Fraser syndrome https://medlineplus.gov/genetics/condition/breast-cancer Breast cancer, familial Breast carcinoma Cancer of breast Malignant neoplasm of breast Malignant tumor of breast Mammary cancer https://medlineplus.gov/genetics/condition/brody-myopathy Brody disease https://medlineplus.gov/genetics/condition/brugada-syndrome Bangungut Idiopathic ventricular fibrillation, Brugada type Pokkuri death syndrome SUDS SUNDS Sudden unexpected nocturnal death syndrome Sudden unexplained death syndrome https://medlineplus.gov/genetics/condition/bunion Bunion of great toe HAV HV Hallux abductovalgus Hallux valgus https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome BMKS Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome OOFD Oculo-oto-facial dysplasia Oculootofacial dysplasia https://medlineplus.gov/genetics/condition/buschke-ollendorff-syndrome BOS Dermatofibrosis disseminata lenticularis Dermatofibrosis lenticularis disseminata Dermatofibrosis lenticularis disseminata with osteopoikilosis Dermatofibrosis, disseminated, with osteopoikilosis Dermatoosteopoikilosis Osteopathia condensans disseminata https://medlineplus.gov/genetics/condition/c3-glomerulopathy C3 glomerulonephritis C3G DDD DDD/MPGNII Dense deposit disease Membranoproliferative glomerulonephritis type II https://medlineplus.gov/genetics/condition/cask-related-intellectual-disability CASK-related disorders X-linked intellectual deficit, Najm type https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility CATSPER-related nonsyndromic male infertility CATSPER1-related male infertility https://medlineplus.gov/genetics/condition/cav3-related-distal-myopathy Distal myopathy, Tateyama type MPDT https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder CDKL5 deficiency CDKL5 disorder CDKL5 encephalopathy CDKL5-related epilepsy CDKL5-related epileptic encephalopathy Cyclin-dependent kinase-like 5 deficiency disorder Early infantile epileptic encephalopathy 2 https://medlineplus.gov/genetics/condition/charge-syndrome CHARGE association Hall-Hittner syndrome https://medlineplus.gov/genetics/condition/chd2-myoclonic-encephalopathy CHD2 encephalopathy CHD2-related neurodevelopmental disorders https://medlineplus.gov/genetics/condition/child-syndrome CHILD nevus Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Congenital hemidysplasia with ichthyosiform nevus and limbs defects Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia Chromosome 3-linked frontotemporal dementia DTM1 FTD-3 FTD-CHMP2B FTD3 https://medlineplus.gov/genetics/condition/chops-syndrome Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia https://medlineplus.gov/genetics/condition/chst3-related-skeletal-dysplasia Autosomal recessive Larsen syndrome CDMD Chondrodysplasia with multiple dislocations Humero-spinal dysostosis SED with luxations, CHST3 type SED, Omani type Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia, Omani type https://medlineplus.gov/genetics/condition/clcn2-related-leukoencephalopathy CC2L LKPAT Leukoencephalopathy with ataxia Leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy with white matter edema https://medlineplus.gov/genetics/condition/cln1-disease CLN1 Infantile Batten disease Infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis, infantile Santavuori-Haltia disease https://medlineplus.gov/genetics/condition/cln10-disease CLN10 Cathepsin D deficiency Cathepsin D deficient neuronal ceroid lipofuscinosis Congenital neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 10 Neuronal ceroid lipofuscinosis due to cathepsin D deficiency https://medlineplus.gov/genetics/condition/cln11-disease Ceroid lipofuscinosis, neuronal, 11 GRN-related neuronal ceroid-lipofuscinosis https://medlineplus.gov/genetics/condition/cln2-disease Jansky-Bielschowsky disease LINCL Late-infantile Batten disease Late-infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis, late-infantile https://medlineplus.gov/genetics/condition/cln3-disease Batten-Mayou disease Batten-Spielmeyer-Vogt disease CLN3-related neuronal ceroid-lipofuscinosis Juvenile Batten disease Juvenile cerebroretinal degeneration Juvenile neuronal ceroid lipofuscinosis Spielmeyer-Vogt disease https://medlineplus.gov/genetics/condition/cln4-disease Adult neuronal ceroid lipofuscinosis CLN4B Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant Parry disease https://medlineplus.gov/genetics/condition/cln5-disease Finnish vLINCL Finnish variant late infantile neuronal ceroid lipofuscinosis Jansky-Bielschowsky disease Late-infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis, late-infantile VLINCL https://medlineplus.gov/genetics/condition/cln6-disease CLN6-related neuronal ceroid lipofuscinosis Ceroid lipofuscinosis neuronal 6 Neuronal ceroid lipofuscinosis 6 https://medlineplus.gov/genetics/condition/cln7-disease CLN7 CLN7 disease, late infantile MFSD8-related neuronal ceroid lipofuscinosis https://medlineplus.gov/genetics/condition/cln8-disease Neuronal ceroid lipofuscinosis 8 https://medlineplus.gov/genetics/condition/clpb-deficiency 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type VII 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome MEGCANN MGA7 MGCA7 https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation CDG IIi CDG2I CDGIIi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type IIi https://medlineplus.gov/genetics/condition/col4a1-related-brain-small-vessel-disease Brain small-vessel disease with hemorrhage https://medlineplus.gov/genetics/condition/cul3-related-neurodevelopmental-disorder NEDAUS Neurodevelopmental disorder with or without autism or seizures https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome CCS https://medlineplus.gov/genetics/condition/caffey-disease Caffey-Silverman syndrome De Toni-Caffey disease Infantile cortical hyperostosis https://medlineplus.gov/genetics/condition/campomelic-dysplasia Campomelic dwarfism Campomelic syndrome Camptomelic dysplasia https://medlineplus.gov/genetics/condition/camurati-engelmann-disease CED Camurati-Engelmann syndrome Diaphyseal dysplasia Diaphyseal hyperostosis Diaphyseal osteosclerosis Engelmann disease PDD Progressive diaphyseal dysplasia https://medlineplus.gov/genetics/condition/canavan-disease ACY2 deficiency Aminoacylase 2 deficiency Aspa deficiency Aspartoacylase deficiency Canavan's disease https://medlineplus.gov/genetics/condition/cantu-syndrome Cantu syndrome Hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome Hypertrichotic osteochondrodysplasia https://medlineplus.gov/genetics/condition/cap-myopathy Cap disease Congenital myopathy with caps https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome CM-AVM Capillary malformation-arteriovenous malformation https://medlineplus.gov/genetics/condition/carbamoyl-phosphate-synthetase-i-deficiency Carbamoyl-phosphate synthase I deficiency disease Carbamyl-phosphate synthetase I deficiency disease Congenital hyperammonemia, type I https://medlineplus.gov/genetics/condition/carbonic-anhydrase-va-deficiency CA-VA deficiency CA5AD Hyperammonemia due to carbonic anhydrase VA deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Mitochondrial carbonic anhydrase va deficiency https://medlineplus.gov/genetics/condition/cardiofaciocutaneous-syndrome CFC syndrome Cardio-facio-cutaneous syndrome https://medlineplus.gov/genetics/condition/carney-complex Carney Syndrome LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency CPT 1A deficiency CPT I deficiency CPT deficiency, hepatic, type I Carnitine palmitoyltransferase IA deficiency Liver form of carnitine palmitoyltransferase deficiency https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency CPT II deficiency CPT2 deficiency Carnitine palmitoyltransferase 2 deficiency https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency CACT deficiency Carnitine acylcarnitine translocase deficiency Carnitine-acylcarnitine carrier deficiency https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome Amyotrophy, thenar, of carpal origin CTS Carpal canal Carpal tunnel Compression neuropathy, carpal tunnel Distal median nerve compression Distal median nerve entrapment Entrapment neuropathy, carpal tunnel Median neuropathy, carpal tunnel https://medlineplus.gov/genetics/condition/carpenter-syndrome ACPS II Acrocephalopolysyndactyly 2 Acrocephalopolysyndactyly type II Acrocephalosyndactyly, type II Type II acrocephalosyndactyly https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia CHH Cartilage-hair syndrome McKusick's metaphyseal chondrodysplasia syndrome Metaphyseal chondrodysplasia, McKusick type Metaphyseal chondrodysplasia, recessive type https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia Bidirectional tachycardia induced by catecholamines CPVT Catecholamine-induced polymorphic ventricular tachycardia FPVT Familial polymorphic ventricular tachycardia https://medlineplus.gov/genetics/condition/caudal-regression-syndrome CRS Caudal dysgenesis syndrome Caudal dysplasia sequence Caudal regression sequence Lumbo-sacral agenesis SA/CRS Sacral agenesis Sacral defect with anterior meningocele https://medlineplus.gov/genetics/condition/celiac-disease Celiac sprue Gluten enteropathy Sprue https://medlineplus.gov/genetics/condition/central-core-disease CCD CCO Central core myopathy Myopathy, central core Shy's disease Shy-Magee syndrome https://medlineplus.gov/genetics/condition/central-precocious-puberty CPP Gonadotropin-dependent precocious puberty https://medlineplus.gov/genetics/condition/centronuclear-myopathy CNM Myopathy, centronuclear https://medlineplus.gov/genetics/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy CADASIL Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Familial vascular leukoencephalopathy Hereditary dementia, multi-infarct type https://medlineplus.gov/genetics/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy CARASIL Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension Maeda syndrome Nemoto disease https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation CCM Cavernoma Cavernous angioma Central nervous system cavernous hemangioma Cerebral cavernous hemangioma Familial cavernous hemangioma Familial cavernous malformation Familial cerebral cavernous angioma Familial cerebral cavernous malformation Intracerebral cavernous hemangioma https://medlineplus.gov/genetics/condition/cerebral-folate-transport-deficiency Cerebral folate deficiency FOLR1 deficiency Neurodegeneration due to cerebral folate transport deficiency https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia CFSMR CFTD Cerebrofaciothoracic dysplasia Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Pascual-Castroviejo syndrome TMCO1 defect syndrome https://medlineplus.gov/genetics/condition/cerebrotendinous-xanthomatosis CTX Cerebral cholesterinosis Cerebrotendinous cholesterinosis Cholestanol storage disease Cholestanolosis Van Bogaert-Scherer-Epstein disease https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome CDS Chanarin-Dorfman disease DCS Dorfman-Chanarin disease Dorfman-Chanarin syndrome Ichthyosiform Erythroderma with Leukocyte Vacuolation Ichthyotic neutral lipid storage disease NLSDI Neutral lipid storage disease with ichthyosis Triglyceride storage disease with ichthyosis Triglyceride storage disease with impaired long-chain fatty acid oxidation https://medlineplus.gov/genetics/condition/channelopathy-associated-congenital-insensitivity-to-pain Asymbolia for pain CIP CIP-SCN9A Channelopathy-associated insensitivity to pain Congenital analgesia Congenital indifference to pain Congenital pain indifference Indifference to pain, congenital, autosomal recessive Pain insensitivity, congenital https://medlineplus.gov/genetics/condition/char-syndrome Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease CMT Charcot-Marie-Tooth hereditary neuropathy Charcot-Marie-Tooth syndrome HMSN Hereditary motor and sensory neuropathy PMA Peroneal muscular atrophy https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome CHS Chediak-Steinbrinck-Higashi syndrome Oculocutaneous albinism with leukocyte defect https://medlineplus.gov/genetics/condition/cherubism Familial benign giant-cell tumor of the jaw Familial fibrous dysplasia of jaw Familial multilocular cystic disease of the jaws https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy Absence epilepsy, childhood Petit mal epilepsy Pykno-epilepsy Pyknolepsy https://medlineplus.gov/genetics/condition/childhood-myocerebrohepatopathy-spectrum MCHS https://medlineplus.gov/genetics/condition/cholangiocarcinoma CC Cholangiocarcinoma of biliary tract Cholangiocellular carcinoma Distal cholangiocarcinoma Extrahepatic cholangiocarcinoma Intrahepatic cholangiocarcinoma Perihilar cholangiocarcinoma https://medlineplus.gov/genetics/condition/chordoma CHDM Chordocarcinoma Chordoepithelioma Notochordal sarcoma Notochordoma https://medlineplus.gov/genetics/condition/chorea-acanthocytosis CHAC Choreoacanthocytosis Neuroacanthocytosis https://medlineplus.gov/genetics/condition/choroideremia Choroidal sclerosis Progressive tapetochoroidal dystrophy TCD https://medlineplus.gov/genetics/condition/christianson-syndrome Angelman-like syndrome, X-linked Intellectual deficit, X-linked, South African type https://medlineplus.gov/genetics/condition/chronic-atrial-and-intestinal-dysrhythmia CAID Cohesinopathy affecting heart and gut rhythm https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease Autosomal recessive chronic granulomatous disease CGD Granulomatous disease, chronic X-linked chronic granulomatous disease https://medlineplus.gov/genetics/condition/chronic-myeloid-leukemia CGL CML Chronic granulocytic leukemia Chronic myelocytic leukemia Chronic myelogenous leukemia https://medlineplus.gov/genetics/condition/chylomicron-retention-disease Anderson disease Anderson syndrome CMRD Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells Lipid transport defect of intestine https://medlineplus.gov/genetics/condition/citrullinemia CIT Citrullinuria https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia Cleidocranial dysostosis Dento-osseous dysplasia Marie-Sainton syndrome https://medlineplus.gov/genetics/condition/clopidogrel-resistance CYP2C19-related poor drug metabolism Poor metabolism of clopidogrel Resistance to clopidogrel https://medlineplus.gov/genetics/condition/clouston-syndrome Clouston hidrotic ectodermal dysplasia Clouston's syndrome ECTD2 Ectodermal dysplasia 2, Clouston type HED2 Hidrotic ectodermal dysplasia 2 https://medlineplus.gov/genetics/condition/coats-plus-syndrome CRMCC Cerebroretinal microangiopathy with calcifications and cysts https://medlineplus.gov/genetics/condition/cockayne-syndrome CS Dwarfism-retinal atrophy-deafness syndrome https://medlineplus.gov/genetics/condition/coffin-lowry-syndrome CLS Mental retardation with osteocartilaginous abnormalities https://medlineplus.gov/genetics/condition/coffin-siris-syndrome CSS Dwarfism-onychodysplasia Fifth digit syndrome Mental retardation with hypoplastic fifth fingernails and toenails Short stature-onychodysplasia https://medlineplus.gov/genetics/condition/cohen-syndrome Hypotonia, obesity, and prominent incisors Norio syndrome Obesity-hypotonia syndrome Pepper syndrome Prominent incisors-obesity-hypotonia syndrome https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome CISS CNTF receptor-related disorders Crisponi syndrome Sohar-Crisponi syndrome https://medlineplus.gov/genetics/condition/cole-disease Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy Col6-RDs ColVI myopathies Collagen VI-related dystrophies Collagen VI-related myopathies Collagen VI-related myopathy Collagen type VI-related disorders https://medlineplus.gov/genetics/condition/coloboma Congenital ocular coloboma Microphthalmia, isolated, with coloboma Ocular coloboma Uveoretinal coloboma https://medlineplus.gov/genetics/condition/color-vision-deficiency Color blindness Color vision defects Defective color vision Vision defect, color https://medlineplus.gov/genetics/condition/combined-malonic-and-methylmalonic-aciduria CMAMMA https://medlineplus.gov/genetics/condition/combined-oxidative-phosphorylation-deficiency-1 COXPD1 Early fatal progressive hepatoencephalopathy Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 https://medlineplus.gov/genetics/condition/combined-pituitary-hormone-deficiency CPHD Panhypopituitarism https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency CVID Common variable hypogammaglobulinemia Common variable immunodeficiency Immunodeficiency, common variable https://medlineplus.gov/genetics/condition/complement-component-2-deficiency C2 deficiency C2D Complement 2 deficiency https://medlineplus.gov/genetics/condition/complement-component-8-deficiency C8 deficiency https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency C3 inactivator deficiency Complement component 3 inactivator deficiency Hereditary factor I deficiency disease https://medlineplus.gov/genetics/condition/complete-lcat-deficiency FLD Familial LCAT deficiency Familial lecithin-cholesterol acyltransferase deficiency LCAT deficiency Lecithin acyltransferase deficiency Lecithin:cholesterol acyltransferase deficiency Norum disease Norum's disease https://medlineplus.gov/genetics/condition/complete-plasminogen-activator-inhibitor-1-deficiency Complete PAI-1 deficiency Congenital plasminogen activator inhibitor type 1 deficiency Homozygous PAI-1 deficiency Hyperfibrinolysis due to PAI1 deficiency PAI-1 deficiency PAI-1D PAI1 deficiency Plasminogen activator inhibitor type 1 deficiency Plasminogen inhibitor-1 deficiency Quantitative PAI-1 deficiency https://medlineplus.gov/genetics/condition/cone-rod-dystrophy CORD CRD Cone-rod degeneration Cone-rod retinal dystrophy Retinal cone-rod dystrophy Tapetoretinal degeneration https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency 11 beta hydroxylase deficiency 11b hydroxylase deficiency Adrenal hyperplasia, hypertensive form Deficiency of steroid 11-beta-monooxygenase P450C11B1 deficiency Steroid 11 beta hydroxylase deficiency https://medlineplus.gov/genetics/condition/congenital-afibrinogenemia Afibrinogenemia Familial afibrinogenemia https://medlineplus.gov/genetics/condition/congenital-anomalies-of-kidney-and-urinary-tract CAKUT https://medlineplus.gov/genetics/condition/congenital-bilateral-absence-of-the-vas-deferens Absence of vas deferens Absent vasa CAVD CBAVD Congenital absence of vas deferens Congenital aplasia of vas deferens Congenital bilateral absence of vas deferens https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1 3beta-HSDH deficiency 3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBAS1 https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-2 CBAS2 Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency https://medlineplus.gov/genetics/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy CCFDN https://medlineplus.gov/genetics/condition/congenital-central-hypoventilation-syndrome CCHS Congenital central hypoventilation Congenital failure of autonomic control Haddad syndrome Ondine syndrome Ondine-Hirschsprung disease https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly Arthrogyroposis, distal, type 9 Beals syndrome Beals-Hecht syndrome CCA Contractural arachnodactyly, congenital DA9 Distal arthrogyropsis type 9 https://medlineplus.gov/genetics/condition/congenital-deafness-with-labyrinthine-aplasia-microtia-and-microdontia Congenital deafness with inner ear agenesis, microtia, and microdontia Deafness with LAMM LAMM syndrome https://medlineplus.gov/genetics/condition/congenital-diaphragmatic-hernia Congenital diaphragmatic defect https://medlineplus.gov/genetics/condition/congenital-dyserythropoietic-anemia Anemia, dyserythropoietic, congenital CDA https://medlineplus.gov/genetics/condition/congenital-fiber-type-disproportion CFTD CFTDM Congenital myopathy with fiber type disproportion https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles CFEOM Congenital external ophthalmoplegia Congenital fibrosis of extraocular muscles Congenital fibrosis syndrome General fibrosis syndrome https://medlineplus.gov/genetics/condition/congenital-generalized-lipodystrophy BSCL Berardinelli-Seip congenital lipodystrophy Berardinelli-Seip syndrome Brunzell syndrome (with bone cysts) Generalized lipodystrophy Lipodystrophy, congenital generalized Seip syndrome Total lipodystrophy https://medlineplus.gov/genetics/condition/congenital-hepatic-fibrosis CHF Congenital fibrose liver https://medlineplus.gov/genetics/condition/congenital-hyperinsulinism Hyperinsulinemia hypoglycemia of infancy Infancy hyperinsulinemia hypoglycemia Neonatal hyperinsulinism PHHI hypoglycemia Persistent hyperinsulinemia hypoglycemia of infancy Persistent hyperinsulinemic hypoglycemia https://medlineplus.gov/genetics/condition/congenital-hypothyroidism CH CHT Congenital myxedema Cretinism https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis CIPA HSAN type IV HSAN4 Hereditary insensitivity to pain with anhidrosis Hereditary sensory and autonomic neuropathy type IV Hereditary sensory and autonomic neuropathy, type 4 https://medlineplus.gov/genetics/condition/congenital-leptin-deficiency LEPD Leptin deficiency Obesity due to congenital leptin deficiency Obesity, morbid, due to leptin deficiency Obesity, morbid, nonsyndromic 1 Obesity, severe, due to leptin deficiency https://medlineplus.gov/genetics/condition/congenital-mirror-movement-disorder Bimanual synergia Bimanual synkinesis CMM Congenital mirror movements Mirror movements https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome CMS Congenital myasthenia Congenital myasthenic syndromes https://medlineplus.gov/genetics/condition/congenital-nephrotic-syndrome Familial nephrotic syndrome https://medlineplus.gov/genetics/condition/congenital-plasminogen-deficiency Hypoplasminogenemia Plasminogen deficiency, type I https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy CSCD Congenital hereditary stromal dystrophy of the cornea Congenital stromal dystrophy of the cornea Corneal dystrophy, congenital stromal DACS Decorin-associated congenital stromal corneal dystrophy Dystrophia corneae parenchymatosa congenita https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency CSID Congenital sucrose intolerance Congenital sucrose-isomaltose malabsorption Disaccharide intolerance I SI deficiency Sucrase-isomaltase deficiency https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome BMMRD Biallelic mismatch repair deficiency syndrome Mismatch repair cancer syndrome Mismatch repair deficiency https://medlineplus.gov/genetics/condition/core-binding-factor-acute-myeloid-leukemia CBF acute myeloid leukemia CBF-AML Core-binding factor AML https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome BDLS Brachmann-de Lange syndrome CdLS De Lange syndrome Typus degenerativus amstelodamensis https://medlineplus.gov/genetics/condition/corticosteroid-binding-globulin-deficiency CBG deficiency Transcortin deficiency https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency 18-hydroxylase deficiency 18-oxidase deficiency Aldosterone deficiency Aldosterone deficiency due to deficiency of steroid 18-hydroxylase Aldosterone deficiency due to deficiency of steroid 18-oxidase Aldosterone synthase deficiency CMO deficiency Congenital hypoaldosteronism Corticosterone 18-monooxygenase deficiency Corticosterone methyl oxidase deficiency Familial hyperreninemic hypoaldosteronism Steroid 18-hydroxylase deficiency Steroid 18-oxidase deficiency Visser-Cost syndrome https://medlineplus.gov/genetics/condition/costeff-syndrome 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi Jewish optic atrophy plus MGA, type III MGA3 OPA3 defect Optic atrophy plus syndrome https://medlineplus.gov/genetics/condition/costello-syndrome FCS syndrome Faciocutaneoskeletal syndrome https://medlineplus.gov/genetics/condition/cowden-syndrome CD CS Cowden disease Cowden's disease Cowden's syndrome MHAM Multiple hamartoma syndrome https://medlineplus.gov/genetics/condition/cranioectodermal-dysplasia CED Sensenbrenner syndrome https://medlineplus.gov/genetics/condition/craniofacial-microsomia Asymmetric hypoplasia of facial structures Auriculobranchiogenic dysplasia CFM FAV Facioauriculovertebral dysplasia First and second branchial arch syndrome First and second pharyngeal arch syndromes Goldenhar syndrome Goldenhar-Gorlin syndrome HFM Hemifacial microsomia Lateral facial dysplasia OAV complex OAVS Oculoauriculovertebral spectrum Oral-mandibular-auricular syndrome Otomandibular dysostosis Unilateral intrauterine facial necrosis Unilateral mandibulofacial dysostosis https://medlineplus.gov/genetics/condition/craniofacial-deafness-hand-syndrome CDHS https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome CFND CFNS Craniofrontonasal dysplasia Craniofrontonasal dystosis https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia Autosomal dominant craniometaphyseal dysplasia Autosomal recessive craniometaphyseal dysplasia CMD CMDD CMDJ CMDR Craniometaphyseal dysplasia, Jackson type https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome 5p deletion syndrome 5p- syndrome Cat cry syndrome Chromosome 5p- syndrome Monosomy 5p https://medlineplus.gov/genetics/condition/crigler-najjar-syndrome Crigler Najjar syndrome Familial nonhemolytic unconjugated hyperbilirubinemia Hereditary unconjugated hyperbilirubinemia https://medlineplus.gov/genetics/condition/critical-congenital-heart-disease CCHD Critical congenital heart defects https://medlineplus.gov/genetics/condition/crohns-disease Colitis, granulomatous Crohn disease Crohn's enteritis Enteritis, granulomatous Enteritis, regional https://medlineplus.gov/genetics/condition/crouzon-syndrome CFD1 Craniofacial dysarthrosis Craniofacial dysostosis Craniofacial dysostosis syndrome Craniofacial dysostosis type 1 Crouzon craniofacial dysostosis Crouzon disease Crouzon's disease https://medlineplus.gov/genetics/condition/crouzon-syndrome-with-acanthosis-nigricans CAN Crouzonodermoskeletal syndrome https://medlineplus.gov/genetics/condition/cryopyrin-associated-periodic-syndromes CAPS Cryopyrinopathy NLRP3-associated autoinflammatory disease https://medlineplus.gov/genetics/condition/cryptogenic-cirrhosis Cirrhosis, cryptogenic https://medlineplus.gov/genetics/condition/cushing-disease Hypercortisolism Pituitary ACTH hypersecretion Pituitary Cushing syndrome Pituitary-dependant Cushing syndrome Pituitary-dependant hypercortisolism Pituitary-dependant hypercortisolism disorder https://medlineplus.gov/genetics/condition/cutis-laxa Dermatolysis Dermatomegaly https://medlineplus.gov/genetics/condition/cyclic-neutropenia Cyclic hematopoesis Cyclic leucopenia Periodic neutropenia https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome Abdominal migraine CVS Cyclical vomiting Cyclical vomiting syndrome Periodic vomiting https://medlineplus.gov/genetics/condition/cystic-fibrosis CF Cystic fibrosis of pancreas Fibrocystic disease of pancreas Mucoviscidosis https://medlineplus.gov/genetics/condition/cystinosis Cystine storage disease https://medlineplus.gov/genetics/condition/cystinuria CSNU https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency Antley-Bixler syndrome Antley-Bixler syndrome with disordered steroidogenesis Antley-Bixler syndrome-like phenotype with disordered steroidogenesis Combined partial deficiency of 17-hydroxylase and 21-hydroxylase Congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency POR deficiency PORD https://medlineplus.gov/genetics/condition/cytochrome-c-oxidase-deficiency COX deficiency Complex IV deficiency Cytochrome-c oxidase deficiency Mitochondrial complex IV deficiency https://medlineplus.gov/genetics/condition/cytogenetically-normal-acute-myeloid-leukemia Acute myelogenous leukemia with normal karyotype CN-AML NK-AML Normal karyotype acute myeloid leukemia https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency 17-beta-hydroxysteroid dehydrogenase IV deficiency Bifunctional peroxisomal enzyme deficiency DBP deficiency PBFE deficiency Peroxisomal bifunctional enzyme deficiency Pseudo-Zellweger syndrome Zellweger-like syndrome https://medlineplus.gov/genetics/condition/dicer1-syndrome DICER1-related pleuropulmonary blastoma cancer predisposition syndrome Pleuropulmonary blastoma familial tumor and dysplasia syndrome Pleuropulmonary blastoma family tumor susceptibility syndrome https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy Intellectual developmental disorder 62 SHINE syndrome intellectual developmental disorder, autosomal dominant 62 sleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome https://medlineplus.gov/genetics/condition/dnmt3a-overgrowth-syndrome TBRS Tatton-Brown-Rahman syndrome https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome AR-HIES Autosomal recessive HIES Autosomal recessive hyper-IgE syndrome CID due to DOCK8 deficiency Combined immunodeficiency due to DOCK8 deficiency DOCK8 deficiency Hyper IgE recurrent infection syndrome, autosomal recessive Hyper immunoglobulin E syndrome, autosomal recessive Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Hyperimmunoglobulin E syndrome type 2 Non-skeletal hyper-IgE syndrome https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation CDG1M Congenital disorder of glycosylation, type Im DK1 deficiency DOLK-CDG Dolichol kinase deficiency https://medlineplus.gov/genetics/condition/doors-syndrome Autosomal recessive deafness-onychodystrophy syndrome DOOR syndrome DRC syndrome Deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome Deafness-oncychodystrophy-osteodystrophy-intellectual disability syndrome Deafness-onychoosteodystrophy-intellectual disability syndrome Digitorenocerebral syndrome Eronen syndrome https://medlineplus.gov/genetics/condition/dandy-walker-malformation DWM DWS Dandy-Walker complex Dandy-Walker cyst Dandy-Walker deformity Dandy-Walker syndrome Hydrocephalus, internal, Dandy-Walker type Hydrocephalus, noncommunicating, Dandy-Walker type Luschka-Magendie foramina atresia https://medlineplus.gov/genetics/condition/danon-disease Glycogen storage disease type 2B Glycogen storage disease type IIb Lysosomal glycogen storage disease with normal acid maltase Lysosomal glycogen storage disease without acid maltase deficiency X-linked pseudoglycogenosis II X-linked vacuolar cardiomyopathy and myopathy https://medlineplus.gov/genetics/condition/darier-disease Darier's disease Darier-White disease Keratosis follicularis https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome DFNMYP Deafness and myopia Deafness, cochlear, plus High myopia and sensorineural deafness High myopia-sensorineural deafness syndrome Myopia and deafness https://medlineplus.gov/genetics/condition/deafness-dystonia-optic-neuronopathy-syndrome Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency Deafness-dystonia-optic atrophy syndrome Jensen syndrome Mohr-Tranebjærg syndrome Opticoacoustic nerve atrophy with dementia https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome Chromosome 15q15.3 deletion syndrome DIS Sensorineural deafness and infertility Sensorineural deafness and male infertility https://medlineplus.gov/genetics/condition/dementia-with-lewy-bodies DLB Dementia of the Lewy body type Dementia, Lewy body Diffuse Lewy body disease LBD Lewy body dementia Lewy body disease https://medlineplus.gov/genetics/condition/dent-disease Dent's disease Dents disease https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy DRPLA Haw River syndrome Myoclonic epilepsy with choreoathetosis NOD Naito-Oyanagi disease https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta DGI Hereditary opalescent dentin https://medlineplus.gov/genetics/condition/denys-drash-syndrome DDS Drash syndrome Nephropathy, Wilms tumor, and genital anomalies Wilms tumor and pseudohermaphroditism https://medlineplus.gov/genetics/condition/deoxyguanosine-kinase-deficiency DGUOK deficiency DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form MTDPS3 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency https://medlineplus.gov/genetics/condition/depression Clinical depression Depressive disorder MDD Major depression Major depressive disorder Unipolar depression https://medlineplus.gov/genetics/condition/dermatofibrosarcoma-protuberans DFSP Darier-Ferrand tumor Darier-Hoffmann tumor Dermatofibrosarcoma https://medlineplus.gov/genetics/condition/desmoid-tumor Aggressive fibromatosis Deep fibromatosis Desmoid fibromatosis Familial infiltrative fibromatosis Hereditary desmoid disease Musculoaponeurotic fibromatosis https://medlineplus.gov/genetics/condition/desmosterolosis Deficiency of 3beta-hydroxysterol delta24-reductase https://medlineplus.gov/genetics/condition/developmental-and-epileptic-encephalopathy-1 EIEE1 Early infantile epileptic encephalopathy-1 Epileptic encephalopathy, early infantile, 1 ISSX ISSX1 Infantile epileptic-dyskinetic encephalopathy X-linked Ohtahara syndrome X-linked West syndrome X-linked infantile spasm syndrome X-linked infantile spasm syndrome 1 https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia Aase syndrome Aase-Smith syndrome II BDA BDS Blackfan Diamond anemia Blackfan-Diamond disease Blackfan-Diamond syndrome Chronic congenital agenerative anemia Congenital erythroid hypoplastic anemia Congenital hypoplastic anemia of Blackfan and Diamond Congenital pure red cell anemia Congenital pure red cell aplasia DBA Erythrogenesis imperfecta Hypoplastic congenital anemia Inherited erythroblastopenia Pure hereditary red cell aplasia https://medlineplus.gov/genetics/condition/diastrophic-dysplasia DTD Diastrophic dwarfism https://medlineplus.gov/genetics/condition/dihydrolipoamide-dehydrogenase-deficiency DLD deficiency Dihydrolipoyl dehydrogenase deficiency E3 deficiency Lactic acidosis due to LAD deficiency Lactic acidosis due to lipoamide dehydrogenase deficiency Lipoamide dehydrogenase deficiency Maple syrup urine disease, type III https://medlineplus.gov/genetics/condition/dihydropyrimidinase-deficiency DPH deficiency DPYS deficiency Dihydropyrimidinuria Dihydrouracil amidohydrolase deficiency https://medlineplus.gov/genetics/condition/dihydropyrimidine-dehydrogenase-deficiency DPD deficiency Dihydropyrimidinuria Familial pyrimidemia Hereditary thymine-uraciluria https://medlineplus.gov/genetics/condition/dilated-cardiomyopathy-with-ataxia-syndrome 3-methylglutaconic aciduria type V DCMA DCMA syndrome DNAJC19 defect MGA type V MGA5 MGCA5 https://medlineplus.gov/genetics/condition/distal-18q-deletion-syndrome 18q deletion syndrome 18q- syndrome Chromosome 18 long arm deletion syndrome Chromosome 18q deletion syndrome Chromosome 18q monosomy Chromosome 18q- syndrome Del(18q) syndrome Monosomy 18q https://medlineplus.gov/genetics/condition/distal-arthrogryposis-type-1 AMCD1 Arthrogryposis, distal, type 1 DA1 https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-ii Distal hereditary motor neuronopathy, type II https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-v DHMN-V DSMAV Distal hereditary motor neuronopathy type 5 Distal hereditary motor neuronopathy, type V Distal spinal muscular atrophy, type V HMN V Spinal muscular atrophy, distal type V Spinal muscular atrophy, distal, with upper limb predominance https://medlineplus.gov/genetics/condition/distal-myopathy-2 Distal myopathy with vocal cord and pharyngeal signs Distal myopathy with vocal cord weakness MPD2 Matrin 3 distal myopathy Myopathia distalis type 2 VCPDM Vocal cord and pharyngeal weakness with distal myopathy https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome DBS DBS/FOAR syndrome Diaphragmatic hernia-exomphalos-corpus callosum agenesis Diaphragmatic hernia-exomphalos-hypertelorism syndrome FOAR syndrome Faciooculoacousticorenal syndrome https://medlineplus.gov/genetics/condition/donohue-syndrome Donohue's syndrome Leprechaunism Leprechaunism syndrome https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia DRD Dystonia 5, dopa-responsive type Hereditary progressive dystonia with marked diurnal fluctuation https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency DBH deficiency Dopamine β-hydroxylase deficiency https://medlineplus.gov/genetics/condition/dopamine-transporter-deficiency-syndrome DTDS Infantile parkinsonism-dystonia PKDYS Parkinsonism-dystonia, infantile https://medlineplus.gov/genetics/condition/dowling-degos-disease DDD Dark dot disease Dowling-Degos-Kitamura disease Reticular pigment anomaly of flexures Reticular pigmented anomaly of flexures https://medlineplus.gov/genetics/condition/down-syndrome 47,XX,+21 47,XY,+21 Down's syndrome Trisomy 21 Trisomy G https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome DRRS Okihiro syndrome https://medlineplus.gov/genetics/condition/dubin-johnson-syndrome Black liver-jaundice syndrome Chronic idiopathic jaundice Chronic idiopathic jaundice with pigmented liver DJS Dubin-Sprinz syndrome Hyperbilirubinemia II Hyperbilirubinemia, Dubin-Johnson type Jaundice, chronic idiopathic https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy DBMD Duchenne/Becker muscular dystrophy Muscular dystrophy, Duchenne and Becker types Muscular dystrophy, pseudohypertrophic https://medlineplus.gov/genetics/condition/dupuytren-contracture Contraction of palmar fascia Dupuytren disease Dupuytren's contracture Familial palmar fibromatosis Palmar fascial fibromatosis Palmar fibromas https://medlineplus.gov/genetics/condition/dyserythropoietic-anemia-and-thrombocytopenia Dyserythropoietic anemia with thrombocytopenia GATA-1-related thrombocytopenia with dyserythropoiesis GATA1-related X-linked cytopenia GATA1-related cytopenia X-linked macrothrombocytopenia https://medlineplus.gov/genetics/condition/dyskeratosis-congenita Zinsser-Cole-Engman syndrome https://medlineplus.gov/genetics/condition/dystonia-16 DYT-PRKRA DYT16 Young-onset dystonia-(parkinsonism) https://medlineplus.gov/genetics/condition/dystonia-6 DYT6 DYT6 dystonia Idiopathic torsion dystonia of mixed type Primary dystonia, DYT6 type THAP1 dystonia Torsion dystonia 6 https://medlineplus.gov/genetics/condition/dystrophic-epidermolysis-bullosa DEB Epidermolysis bullosa dystrophica Epidermolysis bullosa, dystrophic https://medlineplus.gov/genetics/condition/early-onset-glaucoma Hereditary glaucoma https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia DYT1 Dystonia musculorum deformans 1 Early-onset generalized torsion dystonia Early-onset primary dystonia Oppenheim dystonia Oppenheim's dystonia Primary torsion dystonia https://medlineplus.gov/genetics/condition/early-onset-myopathy-with-fatal-cardiomyopathy EOMFC Salih CMD Salih congenital muscular dystrophy Salih myopathy Titinopathy & early-onset myopathy with fatal cardiomyopathy https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome EDS Ehlers Danlos disease https://medlineplus.gov/genetics/condition/ellis-van-creveld-syndrome Chondroectodermal dysplasia Ellis-van Creveld dysplasia https://medlineplus.gov/genetics/condition/emanuel-syndrome Der(22) syndrome due to 3:1 meiotic disjunction events Supernumerary der(22) syndrome Supernumerary der(22)t(11;22) syndrome Supernumerary derivative 22 chromosome syndrome https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy Benign scapuloperoneal muscular dystrophy with early contractures EDMD Emery-Dreifuss syndrome Muscular dystrophy, Emery-Dreifuss type https://medlineplus.gov/genetics/condition/encephalocraniocutaneous-lipomatosis ECCL Fishman syndrome (formerly) Haberland syndrome (formerly) https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina Catlin marks Cranium bifidum Cranium bifidum occultum FPP Fenestrae parietals symmetricae Foramina parietalia permagna Giant parietal foramina Hereditary cranium bifidum PFM Parietal foramina Symmetric parietal foramina https://medlineplus.gov/genetics/condition/eosinophil-peroxidase-deficiency EPXD Peroxidase and phospholipid deficiency in eosinophils Presentey anomaly https://medlineplus.gov/genetics/condition/epidermal-nevus Epidermal naevus https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-simplex EBS https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia Carmi syndrome EB-PA Junctional epidermolysis bullosa with pyloric atresia PA-JEB https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis BCIE BIE Bullous congenital ichthyosiform erythroderma Bullous erythroderma ichthyosiforme Bullous erythroderma ichthyosiformis congenita of Brocq Bullous ichthyosiform erythroderma EHK Epidermolytic ichthyosis Hyperkeratosis, epidermolytic https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum Acquired aphasia with epilepsy DEE/EE-SWAS Developmental and/or epileptic encephalopathy with spike-wave activation in Sleep Epilepsy with continuous spike-wave in sleep Epilepsy with electrographic status epilepticus in sleep FESD Focal epilepsies with speech and language disorders Focal epilepsy with speech disorder and with or without mental retardation https://medlineplus.gov/genetics/condition/episodic-ataxia EA https://medlineplus.gov/genetics/condition/erdheim-chester-disease Lipid granulomatosis Polyostotic sclerosing histiocytosis https://medlineplus.gov/genetics/condition/erythrokeratodermia-variabilis-et-progressiva EKV EKV-P EKVP Erythrokeratodermia variabilis Erythrokeratodermia variabilis of Mendes da Costa Erythrokeratodermia, progressive symmetric Progressive symmetrical erythrokeratoderma of Gottron https://medlineplus.gov/genetics/condition/erythromelalgia Erythermalgia Familial erythromelalgia Primary erythromelalgia https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula EA/TEF https://medlineplus.gov/genetics/condition/essential-pentosuria Essential benign pentosuria L-xylulose reductase deficiency L-xylulosuria Pentosuria Xylitol dehydrogenase deficiency https://medlineplus.gov/genetics/condition/essential-thrombocythemia Essential thrombocytosis Primary thrombocythemia Primary thrombocytosis https://medlineplus.gov/genetics/condition/essential-tremor Benign essential tremor Familial tremor Hereditary essential tremor https://medlineplus.gov/genetics/condition/ethylmalonic-encephalopathy EPEMA syndrome Encephalopathy, petechiae, and ethylmalonic aciduria https://medlineplus.gov/genetics/condition/ewing-sarcoma Ewing family of tumors Ewing tumor Ewing's sarcoma Ewing's tumor Tumor of the Ewing family https://medlineplus.gov/genetics/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome FBXL4 deficiency FBXL4-related early onset mitochondrial encephalopathy MTDPS13 Mitochondrial DNA depletion syndrome 13, encephalomyopathic type https://medlineplus.gov/genetics/condition/fg-syndrome FGS FGS1 Keller syndrome Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum OKS Opitz-Kaveggia syndrome https://medlineplus.gov/genetics/condition/foxg1-syndrome FOXG1-related disorder https://medlineplus.gov/genetics/condition/foxp2-related-speech-and-language-disorder Speech and language disorder with orofacial dyspraxia Speech-language disorder 1 https://medlineplus.gov/genetics/condition/fabry-disease Alpha-galactosidase A deficiency Anderson-Fabry disease Angiokeratoma corporis diffusum Angiokeratoma diffuse Ceramide trihexosidase deficiency Fabry's disease GLA deficiency Hereditary dystopic lipidosis https://medlineplus.gov/genetics/condition/facioscapulohumeral-muscular-dystrophy FSH muscular dystrophy FSHD Facio-scapulo-humeral dystrophy Facioscapulohumeral atrophy Facioscapulohumeral type progressive muscular dystrophy Facioscapuloperoneal muscular dystrophy Muscular dystrophy, facioscapulohumeral https://medlineplus.gov/genetics/condition/factor-v-leiden-thrombophilia APC resistance, Leiden type Hereditary resistance to activated protein C https://medlineplus.gov/genetics/condition/factor-v-deficiency Labile factor deficiency Owren disease Owren's disease Parahemophilia Proaccelerin deficiency https://medlineplus.gov/genetics/condition/factor-vii-deficiency F7 deficiency Hypoproconvertinemia Proconvertin deficiency Prothrombin conversion accelerator deficiency Serum prothrombin conversion accelerator deficiency https://medlineplus.gov/genetics/condition/factor-x-deficiency Congenital Stuart factor deficiency F10 deficiency Stuart-Prower factor deficiency https://medlineplus.gov/genetics/condition/factor-xi-deficiency F11 deficiency Factor 11 deficiency Haemophilia C Hemophilia C PTA deficiency Plasma thromboplastin antecedent deficiency Rosenthal factor deficiency Rosenthal syndrome Rosenthal's disease https://medlineplus.gov/genetics/condition/factor-xiii-deficiency Deficiency of factor XIII Deficiency, Laki-Lorand factor Fibrin stabilizing factor deficiency https://medlineplus.gov/genetics/condition/familial-hdl-deficiency FHA Familial hypoalphalipoproteinemia HDL deficiency, type 2 HDLD Low serum HDL cholesterol Primary hypoalphalipoproteinemia https://medlineplus.gov/genetics/condition/familial-mediterranean-fever Benign paroxysmal peritonitis FMF Familial paroxysmal polyserositis MEF Recurrent polyserositis Reimann periodic disease Siegal-Cattan-Mamou disease Wolff periodic disease https://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa CEBPA-dependent familial acute myeloid leukemia Familial acute myeloid leukaemia https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis Adenomatous familial polyposis Adenomatous familial polyposis syndrome Adenomatous polyposis coli FAP Familial multiple polyposis syndrome MYH-associated polyposis https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation Atrial fibrillation, familial Auricular fibrillation https://medlineplus.gov/genetics/condition/familial-candidiasis Familial chronic mucocutaneous candidiasis https://medlineplus.gov/genetics/condition/familial-cold-autoinflammatory-syndrome-type-2 FCAS2 Familial cold-induced autoinflammatory syndrome type 2 https://medlineplus.gov/genetics/condition/familial-dilated-cardiomyopathy Congestive cardiomyopathy FDC Familial idiopathic cardiomyopathy Primary familial dilated cardiomyopathy https://medlineplus.gov/genetics/condition/familial-dysautonomia FD HSAN type III HSAN3 HSN-III Riley-Day syndrome https://medlineplus.gov/genetics/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies FENIB Familial dementia with neuroserpin inclusion bodies https://medlineplus.gov/genetics/condition/familial-erythrocytosis Benign familial polycythemia Congenital erythrocytosis Familial polycythemia Hereditary erythrocytosis Primary familial polycythemia https://medlineplus.gov/genetics/condition/familial-exudative-vitreoretinopathy FEVR https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci FFEVF Familial partial epilepsy with variable foci Partial epilepsy with variable foci https://medlineplus.gov/genetics/condition/familial-glucocorticoid-deficiency ACTH resistance Adrenal unresponsiveness to ACTH Glucocorticoid deficiency Hereditary unresponsiveness to adrenocorticotropic hormone Isolated glucocorticoid deficiency https://medlineplus.gov/genetics/condition/familial-hemiplegic-migraine Hemiplegic migraine, familial Hemiplegic-ophthalmoplegic migraine https://medlineplus.gov/genetics/condition/familial-hemophagocytic-lymphohistiocytosis FEL FHL FHLH Familial erythrophagocytic lymphohistiocytosis Familial hemophagocytic histiocytosis Familial hemophagocytic lymphocytosis Familial hemophagocytic reticulosis HPLH Hemophagocytic syndrome Primary hemophagocytic hymphohistiocytosis https://medlineplus.gov/genetics/condition/familial-hyperaldosteronism FH Familial primary aldosteronism Hereditary aldosteronism Hyperaldosteronism, familial https://medlineplus.gov/genetics/condition/familial-hypercholesterolemia FH Familial hypercholesterolaemia https://medlineplus.gov/genetics/condition/familial-hypertrophic-cardiomyopathy Brock's disease Familial asymmetric septal hypertrophy HCM Hereditary ventricular hypertrophy Heritable hypertrophic cardiomyopathy Idiopathic hypertrophic subaortic stenosis Subaortic hypertrophic stenosis https://medlineplus.gov/genetics/condition/familial-hypobetalipoproteinemia FHBL Hypobetalipoproteinemia https://medlineplus.gov/genetics/condition/familial-isolated-hyperparathyroidism FIHP Hyperparathyroidism 1 https://medlineplus.gov/genetics/condition/familial-isolated-pituitary-adenoma FIPA https://medlineplus.gov/genetics/condition/familial-lipoprotein-lipase-deficiency Burger-Grutz syndrome Endogenous hypertriglyceridaemia Familial LPL deficiency Familial fat-induced hypertriglyceridemia Familial hyperchylomicronemia Hyperlipoproteinemia type I Hyperlipoproteinemia type Ia LIPD deficiency Lipase D deficiency Lipoprotein lipase deficiency, familial https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty Familial gonadotrophin-independent sexual precocity GIPP Gonadotrophin-independent precocious puberty Precocious pseudopuberty Pubertas praecox Testotoxicosis https://medlineplus.gov/genetics/condition/familial-osteochondritis-dissecans FOCD OCD OD Osteochondritis dissecans, short stature, and early-onset osteoarthritis https://medlineplus.gov/genetics/condition/familial-paroxysmal-kinesigenic-dyskinesia Dystonia 10 Episodic kinesigenic dyskinesia Familial paroxysmal dystonia Paroxysmal kinesigenic choreoathetosis Paroxysmal kinesigenic dyskinesia https://medlineplus.gov/genetics/condition/familial-paroxysmal-nonkinesigenic-dyskinesia Familial paroxysmal choreoathetosis Mount-Reback syndrome Nonkinesigenic choreoathetosis PDC PNKD Paroxysmal dystonic choreoathetosis Paroxysmal nonkinesigenic dyskinesia https://medlineplus.gov/genetics/condition/familial-partial-lipodystrophy Dunnigan-Kobberling syndrome FPL Kobberling-Dunnigan syndrome Lipodystrophy, familial partial https://medlineplus.gov/genetics/condition/familial-pityriasis-rubra-pilaris Familial PRP https://medlineplus.gov/genetics/condition/familial-porencephaly Autosomal dominant porencephaly type 1 Infantile hemiplegia with porencephaly Porencephaly type 1 https://medlineplus.gov/genetics/condition/familial-restrictive-cardiomyopathy Cardiomyopathy, restrictive RCM https://medlineplus.gov/genetics/condition/familial-thoracic-aortic-aneurysm-and-dissection Annuloaortic ectasia Congenital aneurysm of ascending aorta FAA FTAAD Familial TAAD Familial aortic aneurysm Familial aortic dissection Familial thoracic aortic aneurysm TAA TAAD Thoracic aortic aneurysm https://medlineplus.gov/genetics/condition/fanconi-anemia FA Fanconi hypoplastic anemia Fanconi pancytopenia Fanconi panmyelopathy https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis AC deficiency Acid ceramidase deficiency Acylsphingosine deacylase deficiency Ceramidase deficiency Farber disease Farber's disease Farber's lipogranulomatosis Farber-Uzman syndrome https://medlineplus.gov/genetics/condition/farsightedness Far-sightedness Farsighted Hypermetropia Hyperopia Long-sighted Long-sightedness https://medlineplus.gov/genetics/condition/fatty-acid-hydroxylase-associated-neurodegeneration Dysmyelinating leukodystrophy and spastic paraparesis FAHN Spastic paraplegia 35 https://medlineplus.gov/genetics/condition/feingold-syndrome Brunner-Winter syndrome Microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome Microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome Oculo-digito-esophagoduodental (ODED) syndrome https://medlineplus.gov/genetics/condition/fibrochondrogenesis FBCG1 FBCG2 Fibrochondrogenesis-1 Fibrochondrogenesis-2 https://medlineplus.gov/genetics/condition/fibrodysplasia-ossificans-progressiva FOP Myositis ossificans Myositis ossificans progressiva Progressive myositis ossificans Progressive ossifying myositis https://medlineplus.gov/genetics/condition/fibromyalgia Diffuse myofascial pain syndrome FMS Fibromyalgia syndrome Fibromyalgia-fibromyositis syndrome Fibromyositis Fibrositis Myofascial pain syndrome https://medlineplus.gov/genetics/condition/fibronectin-glomerulopathy Familial glomerular nephritis with fibronectin deposits Familial lobular glomerulopathy GFND Glomerulopathy with fibronectin deposits Glomerulopathy with giant fibrillar deposits https://medlineplus.gov/genetics/condition/fish-eye-disease Alpha-LCAT deficiency Alpha-lecithin:cholesterol acyltransferase deficiency Dyslipoproteinemic corneal dystrophy FED LCATA deficiency Partial LCAT deficiency https://medlineplus.gov/genetics/condition/floating-harbor-syndrome FHS FLHS Leisti-Hollander-Rimoin syndrome Pelletier-Leisti syndrome https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia Goltz syndrome Goltz-Gorlin syndrome https://medlineplus.gov/genetics/condition/fragile-x-syndrome FRAXA syndrome FXS Fra(X) syndrome Marker X syndrome Martin-Bell syndrome X-linked mental retardation and macroorchidism https://medlineplus.gov/genetics/condition/fragile-x-associated-primary-ovarian-insufficiency FMR1-related primary ovarian insufficiency FXPOI Premature ovarian failure 1 X-linked hypergonadotropic ovarian failure https://medlineplus.gov/genetics/condition/fragile-x-associated-tremor-ataxia-syndrome FXTAS Fragile X tremor/ataxia syndrome https://medlineplus.gov/genetics/condition/fragile-xe-syndrome FRAXE intellectual deficit FRAXE intellectual disability FRAXE syndrome https://medlineplus.gov/genetics/condition/fraser-syndrome Cryptophthalmos syndactyly syndrome Cryptophthalmos syndrome Cryptophthalmos with other malformations Fraser's syndrome Fraser-Francois syndrome Meyer-Schwickerath syndrome Ullrich-Feichtiger syndrome https://medlineplus.gov/genetics/condition/frasier-syndrome FS https://medlineplus.gov/genetics/condition/free-sialic-acid-storage-disorder FSASD Sialic acid storage disease https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy DA2A Distal arthrogryposis, type 2A FBS FSS Freeman-Burian syndrome Whistling face syndrome Whistling face-windmill vane hand syndrome https://medlineplus.gov/genetics/condition/friedreich-ataxia FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia https://medlineplus.gov/genetics/condition/frontometaphyseal-dysplasia FMD https://medlineplus.gov/genetics/condition/frontonasal-dysplasia FND FNM Frontonasal dysplasia sequence Frontonasal malformation Frontorhiny Median facial cleft syndrome https://medlineplus.gov/genetics/condition/frontotemporal-dementia-with-parkinsonism-17 DDPAC Disinhibition-dementia-parkinsonism-amytrophy complex FTDP-17 Familial Pick's disease Wilhelmsen-Lynch disease https://medlineplus.gov/genetics/condition/fryns-syndrome Diaphragmatic hernia, abnormal face, and distal limb anomalies https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy Fuchs atrophy Fuchs corneal dystrophy Fuchs dystrophy Fuchs endothelial corneal dystrophy Fuchs' endothelial dystrophy https://medlineplus.gov/genetics/condition/fucosidosis Alpha-L-fucosidase deficiency Fucosidase deficiency https://medlineplus.gov/genetics/condition/fukuyama-congenital-muscular-dystrophy Congenital muscular dystrophy, Fukuyama type FCMD FKTN-related congenital muscular dystrophy MDDGA4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 https://medlineplus.gov/genetics/condition/fumarase-deficiency Fumarate hydratase deficiency Fumaric aciduria https://medlineplus.gov/genetics/condition/fundus-albipunctatus Albipunctate retinal dystrophy Lauber's disease Pigmentary retinal dystrophy https://medlineplus.gov/genetics/condition/gaba-transaminase-deficiency 4 alpha aminobutyrate transaminase deficiency ABAT deficiency GABA transaminase deficiency GABA transferase deficiency GABA-T deficiency Gamma aminobutyrate transaminase deficiency Gamma aminobutyric acid transaminase deficiency Gamma-aminobutyrate transaminase deficiency Gamma-aminobutyric acid transaminase deficiency https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome De Vivo disease Encephalopathy due to GLUT1 deficiency G1D GLUT1 DS GTPS Glucose transport defect, blood-brain barrier Glucose transporter protein syndrome Glucose transporter type 1 deficiency syndrome Glut1 deficiency https://medlineplus.gov/genetics/condition/gm1-gangliosidosis Beta-galactosidase-1 (GLB1) deficiency https://medlineplus.gov/genetics/condition/gm2-activator-deficiency GM2 gangliosidosis, AB variant Hexosaminidase activator deficiency Tay-Sachs disease, AB variant https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic Ganglioside GM3 synthase deficiency Infantile-onset symptomatic epilepsy syndrome https://medlineplus.gov/genetics/condition/gne-myopathy DMRV Distal myopathy with or without rimmed vacuoles Distal myopathy with rimmed vacuoles Distal myopathy, Nonaka type HIBM2 Hereditary inclusion body myopathy type 2 IBM2 Inclusion body myopathy type 2 Inclusion body myopathy, hereditary, autosomal recessive Inclusion body myopathy, quadriceps-sparing Nonaka distal myopathy Nonaka myopathy QSM Quadriceps-sparing myopathy https://medlineplus.gov/genetics/condition/gracile-syndrome Fellman syndrome Finnish lactic acidosis with hepatic hemosiderosis Finnish lethal neonatal metabolic syndrome Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death https://medlineplus.gov/genetics/condition/grin2b-related-neurodevelopmental-disorder EIEE27 Epileptic encephalopathy, early infantile, 27 GRIN2B encephalopathy GRIN2B related syndrome https://medlineplus.gov/genetics/condition/grn-related-frontotemporal-lobar-degeneration FTD-GRN FTD-PGRN FTDP-17 GRN FTDU-17 FTLD FTLD with TDP-43 pathology FTLD-TDP Frontotemporal lobar degeneration GRN-related frontotemporal dementia HDDD1 HDDD2 Hereditary dysphasic disinhibition dementia https://medlineplus.gov/genetics/condition/galactosemia Classic galactosemia Epimerase deficiency galactosemia GALE deficiency GALK deficiency GALT deficiency Galactokinase deficiency disease Galactose epimerase deficiency Galactose-1-phosphate uridyl-transferase deficiency disease UDP-galactose-4-epimerase deficiency disease UTP hexose-1-phosphate uridylyltransferase deficiency https://medlineplus.gov/genetics/condition/galactosialidosis Deficiency of cathepsin A Goldberg syndrome Lysosomal protective protein deficiency Neuraminidase deficiency with beta-galactosidase deficiency PPCA deficiency https://medlineplus.gov/genetics/condition/gastrointestinal-stromal-tumor GIST Gastrointestinal stromal neoplasm Gastrointestinal stromal sarcoma https://medlineplus.gov/genetics/condition/gaucher-disease Cerebroside lipidosis syndrome GD Gaucher splenomegaly Gaucher syndrome Gaucher's disease Gauchers disease Glucocerebrosidase deficiency Glucocerebrosidosis Glucosyl cerebroside lipidosis Glucosylceramidase deficiency Glucosylceramide beta-glucosidase deficiency Glucosylceramide lipidosis Kerasin histiocytosis Kerasin lipoidosis Kerasin thesaurismosis Lipoid histiocytosis (kerasin type) https://medlineplus.gov/genetics/condition/geleophysic-dysplasia Geleophysic dwarfism https://medlineplus.gov/genetics/condition/generalized-arterial-calcification-of-infancy Arteriopathia calcificans infantum Diffuse arterial calcifying elastopathy of infancy GACI IIAC Idiopathic infantile arterial calcification Idiopathic obliterative arteriopathy Infantile calcifying arteriopathy Medial coronary sclerosis of infancy Occlusive infantile arteriopathy https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis Acute generalised pustular psoriasis DITRA Deficiency of the interleukin-36 receptor antagonist GPP Generalized pustular psoriasis of von Zumbusch Von Zumbusch psoriasis https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus GEFS+ Generalized epilepsy with febrile seizures plus https://medlineplus.gov/genetics/condition/genitopatellar-syndrome Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS https://medlineplus.gov/genetics/condition/gestational-diabetes Diabetes mellitus arising in pregnancy Diabetes mellitus, gestational Diabetes mellitus, pregnancy related Diabetes, pregnancy-induced GDM Gestational diabetes mellitus https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia Diaphyseal dysplasia associated with anemia GHDD Ghosal hemato-diaphyseal dysplasia Ghosal syndrome Ghosal-type hemato-diaphyseal dysplasia https://medlineplus.gov/genetics/condition/giant-axonal-neuropathy GAN Giant axonal disease https://medlineplus.gov/genetics/condition/giant-congenital-melanocytic-nevus Congenital giant pigmented nevus of skin Congenital melanocytic nevus syndrome GMN GPHN Giant congenital melanocytic nevi Giant congenital pigmented nevus Giant pigmented hairy nevus https://medlineplus.gov/genetics/condition/gilbert-syndrome Constitutional liver dysfunction Familial nonhemolytic jaundice Gilbert disease Gilbert's disease Gilbert's syndrome Gilbert-Lereboullet syndrome Hyperbilirubinemia 1 Meulengracht syndrome Unconjugated benign bilirubinemia https://medlineplus.gov/genetics/condition/gillespie-syndrome Aniridia, cerebellar ataxia, and mental retardation Aniridia-cerebellar ataxia-intellectual disability Aniridia-cerebellar ataxia-mental deficiency Partial aniridia-cerebellar ataxia-oligophrenia https://medlineplus.gov/genetics/condition/gitelman-syndrome Familial hypokalemia-hypomagnesemia GS Gitelman's syndrome Hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria Tubular hypomagnesemia-hypokalemia with hypocalcuria https://medlineplus.gov/genetics/condition/glanzmann-thrombasthenia Deficiency of glycoprotein complex IIb-IIIa Deficiency of platelet fibrinogen receptor Glanzmann disease Glanzmann-Naegeli disorder Glycoprotein IIb/IIIa defect Hereditary hemorrhagic thrombasthenia Hereditary thrombasthenia Platelet fibrinogen receptor deficiency https://medlineplus.gov/genetics/condition/globozoospermia Acrosome malformation of spermatozoa Round-headed spermatozoa Spermatogenic failure 9 https://medlineplus.gov/genetics/condition/glucose-phosphate-isomerase-deficiency GPI deficiency Glucose-6-phosphate isomerase deficiency Glucosephosphate isomerase deficiency Nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency https://medlineplus.gov/genetics/condition/glucose-6-phosphate-dehydrogenase-deficiency Deficiency of glucose-6-phosphate dehydrogenase G6PD deficiency G6PDD Glucose 6 phosphate dehydrogenase deficiency https://medlineplus.gov/genetics/condition/glucose-galactose-malabsorption Carbohydrate intolerance Complex carbohydrate intolerance Congenital glucose-galactose intolerance Congenital glucose-galactose malabsorption GGM Monosaccharide malabsorption https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency Arakawa syndrome 1 FIGLU-uria Formiminoglutamic aciduria Formiminotransferase deficiency https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i GA I Glutaric acidemia I Glutaric acidemia type 1 Glutaric aciduria I Glutaryl-CoA dehydrogenase deficiency https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii EMA ETFA deficiency ETFB deficiency ETFDH deficiency Electron transfer flavoprotein deficiency Ethylmalonic-adipicaciduria GA II Glutaric acidemia, type 2 Glutaric aciduria, type 2 MAD MADD Multiple FAD dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency https://medlineplus.gov/genetics/condition/glutathione-synthetase-deficiency 5-oxoprolinemia 5-oxoprolinuria Deficiency of glutathione synthase Deficiency of glutathione synthetase Pyroglutamic acidemia Pyroglutamic aciduria https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-0 GSD 0 GSD type 0 Glycogen storage disease 0 Glycogen synthase deficiency Glycogen synthetase deficiency Hypoglycemia with deficiency of glycogen synthetase https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-i GSD I GSD type I Glucose-6-phosphate deficiency Glucose-6-phosphate transport defect Hepatorenal form of glycogen storage disease Hepatorenal glycogenosis Von Gierke disease Von Gierke's disease https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii AGL deficiency Cori disease Cori's disease Debrancher deficiency Forbes disease GSD III GSD3 Glycogen debrancher deficiency Limit dextrinosis https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv Amylopectinosis Andersen disease Andersen glycogenosis Andersen's disease Brancher deficiency Branching enzyme deficiency GSD IV GSD type IV GSD4 Glycogen branching enzyme deficiency Glycogen storage disease IV Glycogen storage disease type 4 Glycogenosis 4 Glycogenosis, type IV Type IV glycogenosis https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-ix GSD IX GSDIX PhK deficiency Phosphorylase b kinase deficiency Phosphorylase kinase deficiency https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v GSD V GSD type V Glycogen storage disease type 5 Glycogenosis 5 McArdle disease McArdle syndrome McArdle type glycogen storage disease McArdle's disease Muscle glycogen phosphorylase deficiency Muscle phosphorylase deficiency Myophosphorylase deficiency PYGM deficiency https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vi GSD VI GSD type VI GSD6 Hepatic glycogen phosphorylase deficiency Hers disease Liver phosphorylase deficiency syndrome https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii GSD VII GSD7 Glycogenosis 7 Muscle phosphofructokinase deficiency PFKM deficiency Phosphofructokinase deficiency Tarui disease https://medlineplus.gov/genetics/condition/glycoprotein-vi-deficiency BDPLT11 Bleeding diathesis due to a collagen receptor defect Bleeding disorder, platelet-type, 11 GP VI deficiency https://medlineplus.gov/genetics/condition/gnathodiaphyseal-dysplasia GDD Gnathodiaphyseal sclerosis Levin syndrome 2 Osteogenesis imperfecta with unusual skeletal lesions Osteogenesis imperfecta, Levin type https://medlineplus.gov/genetics/condition/gordon-holmes-syndrome Cerebellar ataxia and hypogonadotropic hypogonadism Deficiency of luteinizing hormone-releasing hormone with ataxia LHRH deficiency and ataxia https://medlineplus.gov/genetics/condition/gorlin-syndrome BCNS Basal cell nevus syndrome Gorlin-Goltz syndrome NBCCS Nevoid basal cell carcinoma syndrome https://medlineplus.gov/genetics/condition/gorlin-chaudhry-moss-syndrome Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies GCM syndrome GCMS Gorlin Chaudhry Moss syndrome https://medlineplus.gov/genetics/condition/gout Arthritis, gouty Articular gout Gouty arthritis Gouty arthropathy https://medlineplus.gov/genetics/condition/grange-syndrome Arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly GRNG Grange occlusive arterial syndrome https://medlineplus.gov/genetics/condition/granulomatosis-with-polyangiitis GPA https://medlineplus.gov/genetics/condition/graves-disease Autoimmune hyperthyroidism Basedow disease Basedow's disease Exophthalmic goiter Graves' disease Toxic diffuse goiter https://medlineplus.gov/genetics/condition/gray-platelet-syndrome BDPLT4 Bleeding disorder, platelet-type, 4 Deficient alpha granule syndrome GPS Grey platelet syndrome Platelet alpha granule deficiency Platelet alpha-granule deficiency Platelet granule defect https://medlineplus.gov/genetics/condition/greenberg-dysplasia Chondrodystrophy, hydropic and prenatally lethal type Greenberg skeletal dysplasia HEM dysplasia HEM skeletal dysplasia Hydrops - ectopic calcification - moth-eaten skeletal dysplasia Moth-eaten skeletal dysplasia https://medlineplus.gov/genetics/condition/greig-cephalopolysyndactyly-syndrome Cephalopolysyndactyly syndrome GCPS https://medlineplus.gov/genetics/condition/griscelli-syndrome GS Hypopigmentation immunodeficiency disease Partial albinism with immunodeficiency https://medlineplus.gov/genetics/condition/guanidinoacetate-methyltransferase-deficiency Creatine deficiency syndrome due to GAMT deficiency Deficiency of guanidinoacetate methyltransferase GAMT deficiency https://medlineplus.gov/genetics/condition/guillain-barre-syndrome Acute infectious polyneuritis Acute inflammatory polyneuropathy Fisher syndrome GBS Guillain-Barre syndrome Landry-Guillain-Barre syndrome https://medlineplus.gov/genetics/condition/gyrate-atrophy-of-the-choroid-and-retina Gyrate atrophy HOGA Hyperornithinemia with gyrate atrophy of choroid and retina OAT deficiency OKT deficiency Ornithine aminotransferase deficiency Ornithine keto acid aminotransferase deficiency Ornithine-delta-aminotransferase deficiency Ornithinemia with gyrate atrophy https://medlineplus.gov/genetics/condition/hivep2-related-intellectual-disability MRD43 Mental retardation, autosomal dominant 43 https://medlineplus.gov/genetics/condition/hsd10-disease 17β-hydroxysteroid dehydrogenase type 10 deficiency 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2M3HBA 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency 3H2MBD deficiency HSD10 deficiency Hydroxyacyl-CoA dehydrogenase II deficiency MHBD deficiency https://medlineplus.gov/genetics/condition/hailey-hailey-disease Benign chronic pemphigus Benign familial pemphigus Familial benign chronic pemphigus Pemphigus, benign familial https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome Acroosteolysis dominant type Acroosteolysis with osteoporosis and changes in skull and mandible Arthro-dento-osteo dysplasia Arthrodentoosteodysplasia Cheney syndrome Cranioskeletal dysplasia with acro-osteolysis Familial osteodysplasia HJCYS Hereditary osteodysplasia with acro-osteolysis SFPKS Serpentine fibula-polycystic kidney syndrome https://medlineplus.gov/genetics/condition/hand-foot-genital-syndrome HFG syndrome HFGS HFU syndrome Hand-foot-uterus syndrome https://medlineplus.gov/genetics/condition/harlequin-ichthyosis Autosomal recessive congenital ichthyosis 4B HI Harlequin baby syndrome Ichthyosis congenita, harlequin fetus type https://medlineplus.gov/genetics/condition/hartnup-disease Hartnup disorder Hartnup's disease Neutral amino acid transport defect https://medlineplus.gov/genetics/condition/hartsfield-syndrome HHES Hartsfield-Bixler-Demyer syndrome Holoprosencephaly and split hand/foot syndrome Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Holoprosencephaly, hypertelorism, and ectrodactyly syndrome https://medlineplus.gov/genetics/condition/hashimotos-disease Autoimmune chronic lymphocytic thyroiditis Autoimmune thyroiditis Chronic lymphocytic thyroiditides Chronic lymphocytic thyroiditis Hashimoto disease Hashimoto struma Hashimoto syndrome Hashimoto thyroidosis Lymphocytic thyroiditis https://medlineplus.gov/genetics/condition/head-and-neck-squamous-cell-carcinoma HNSCC SCCHN Squamous cell carcinoma of the head and neck https://medlineplus.gov/genetics/condition/hemophilia Haemophilia Hemophilia, familial Hemophilia, hereditary https://medlineplus.gov/genetics/condition/hennekam-syndrome Generalized lymphatic dysplasia Hennekam lymphangiectasia-lymphedema syndrome Intestinal lymphagiectasia-lymphedema-mental retardation syndrome Lymphedema-lymphangiectasia-intellectual disability syndrome https://medlineplus.gov/genetics/condition/hepatic-lipase-deficiency HL deficiency Hyperlipidemia due to hepatic triglyceride lipase deficiency LIPC deficiency https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency Familial veno-occlusive disease with immunodeficiency Hepatic venoocclusive disease with immunodeficiency VODI Veno-occlusive disease and immunodeficiency syndrome https://medlineplus.gov/genetics/condition/hereditary-angioedema C1 esterase inhibitor deficiency C1 inhibitor deficiency HAE HANE Hereditary angioneurotic edema https://medlineplus.gov/genetics/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome Autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures HANAC HANAC syndrome Hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome https://medlineplus.gov/genetics/condition/hereditary-antithrombin-deficiency Antithrombin III deficiency Congenital antithrombin III deficiency https://medlineplus.gov/genetics/condition/hereditary-cerebral-amyloid-angiopathy Autosomal dominant cerebrovascular amyloidosis CAA, familial Cerebral amyloid angiopathy, familial Cerebral amyloid angiopathy, genetic HCHWA-D HCHWA-I Hereditary cerebral hemorrhage with amyloidosis-Dutch type Hereditary cerebral hemorrhage with amyloidosis-Icelandic type https://medlineplus.gov/genetics/condition/hereditary-diffuse-gastric-cancer E-cadherin-associated hereditary gastric cancer FDGC Familial diffuse gastric cancer HDGC Hereditary diffuse gastric adenocarcinoma https://medlineplus.gov/genetics/condition/hereditary-fibrosing-poikiloderma-with-tendon-contractures-myopathy-and-pulmonary-fibrosis HFP Hereditary sclerosing poikiloderma with tendon and pulmonary involvement POIKTMP https://medlineplus.gov/genetics/condition/hereditary-folate-malabsorption Congenital defect of folate absorption Congenital folate malabsorption Folic acid transport defect https://medlineplus.gov/genetics/condition/hereditary-fructose-intolerance ALDOB deficiency Aldolase B deficiency Fructose aldolase B deficiency Fructose intolerance Fructose-1,6-biphosphate aldolase deficiency Fructose-1-phosphate aldolase deficiency Fructosemia https://medlineplus.gov/genetics/condition/hereditary-hemochromatosis Bronze diabetes Bronzed cirrhosis Familial hemochromatosis Genetic hemochromatosis HC HH HLAH Haemochromatosis Hemochromatosis Hereditary haemochromatosis Iron storage disorder Pigmentary cirrhosis Primary hemochromatosis Troisier-Hanot-Chauffard syndrome Von Recklenhausen-Applebaum disease https://medlineplus.gov/genetics/condition/hereditary-hemorrhagic-telangiectasia HHT Osler-Weber-Rendu syndrome https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia Congenital stiff-man syndrome Congenital stiff-person syndrome Familial hyperekplexia Hyperekplexia STHE Startle syndrome Stiff-baby syndrome https://medlineplus.gov/genetics/condition/hereditary-hypophosphatemic-rickets Hypophosphatemia VDRR Vitamin D-resistant rickets https://medlineplus.gov/genetics/condition/hereditary-leiomyomatosis-and-renal-cell-cancer HLRCC Hereditary leiomyomatosis and renal cell carcinoma LRCC Leiomyomatosis and renal cell cancer MCL MCUL Multiple cutaneous and uterine leiomyomata Multiple cutaneous leiomyoma Reed's syndrome https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas Bessel-Hagen disease Diaphyseal aclasis Exostoses, multiple hereditary Familial exostoses Hereditary multiple exostoses Multiple cartilaginous exostoses Multiple congenital exostosis Multiple hereditary exostoses Multiple osteochondromas Multiple osteochondromatosis https://medlineplus.gov/genetics/condition/hereditary-myopathy-with-early-respiratory-failure Edstrom myopathy HMERF Myopathy, proximal, with early respiratory muscle involvement https://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy Amyotrophic neuralgia Brachial neuralgia Brachial neuritis Brachial plexus neuritis Familial brachial plexus neuritis HNA Hereditary brachial plexus neuropathy Heredofamilial neuritis with brachial plexus predilection NAPB Neuralgic amyotrophy Neuritis with brachial predilection Shoulder girdle neuropathy https://medlineplus.gov/genetics/condition/hereditary-neuropathy-with-liability-to-pressure-palsies Compression neuropathy Entrapment neuropathy Familial pressure sensitive neuropathy HNPP Hereditary motor and sensory neuropathy Hereditary pressure sensitive neuropathy Inherited tendency to pressure palsies Tomaculous neuropathy https://medlineplus.gov/genetics/condition/hereditary-pancreatitis Autosomal dominant hereditary pancreatitis Familial pancreatitis HP Hereditary chronic pancreatitis https://medlineplus.gov/genetics/condition/hereditary-paraganglioma-pheochromocytoma FPGL FPGL/PHEO Familial paraganglioma syndrome Familial paraganglioma-pheochromocytoma syndromes Hereditary paraganglioma-pheochromocytoma syndromes Hereditary pheochromocytoma-paraganglioma Paragangliomas 1 Paragangliomas 2 Paragangliomas 3 Paragangliomas 4 https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-ie DNMT1-complex disorder DNMT1-related dementia, deafness, and sensory neuropathy HSAN1E HSN IE HSNIE Hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss Hereditary sensory neuropathy type IE https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-ii Congenital sensory neuropathy HSAN type II HSAN2 HSAN2A HSAN2B HSAN2C HSAN2D HSANII HSN type II Hereditary sensory and autonomic neuropathy type 2 Morvan disease https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-v Congenital insensitivity to pain Congenital sensory neuropathy with selective loss of small myelinated fibers HSAN V HSAN type V HSAN5 Hereditary sensory and autonomic neuropathy, type 5 https://medlineplus.gov/genetics/condition/hereditary-sensory-neuropathy-type-ia Autosomal dominant hereditary sensory radicular neuropathy, type 1A HSAN IA HSAN1A HSN IA HSN1A Hereditary sensory and autonomic neuropathy, type IA https://medlineplus.gov/genetics/condition/hereditary-spherocytosis Congenital spherocytic hemolytic anemia Congenital spherocytosis HS Spherocytic anemia Spherocytosis, type 1 https://medlineplus.gov/genetics/condition/hereditary-xanthinuria Combined deficiency of xanthine dehydrogenase and aldehyde oxidase XDH deficiency Xanthine dehydrogenase deficiency Xanthine oxidase deficiency Xanthinuria https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome HPS https://medlineplus.gov/genetics/condition/heterotaxy-syndrome HTX Heterotaxy Ivemark syndrome Left isomerism Right isomerism Situs ambiguus Situs ambiguus viscerum Visceral heterotaxy https://medlineplus.gov/genetics/condition/hidradenitis-suppurativa Acne inversa Apocrinitis Hidradenitides, suppurative Hidradenitis, suppurative Suppurative hidradenitides Suppurative hidradenitis https://medlineplus.gov/genetics/condition/hirschsprung-disease Aganglionic megacolon Congenital intestinal aganglionosis Congenital megacolon HSCR Hirschsprung's disease https://medlineplus.gov/genetics/condition/histidinemia HAL deficiency HIS deficiency Histidase deficiency Histidine ammonia-lyase deficiency Histidinuria Hyperhistidinemia https://medlineplus.gov/genetics/condition/histiocytosis-lymphadenopathy-plus-syndrome SLC29A3 disorder SLC29A3 spectrum disorder https://medlineplus.gov/genetics/condition/holocarboxylase-synthetase-deficiency Biotin-(propionyl-CoA-carboxylase) ligase deficiency Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Early-onset biotin-responsive multiple carboxylase deficiency Early-onset combined carboxylase deficiency HLCS deficiency Infantile multiple carboxylase deficiency https://medlineplus.gov/genetics/condition/holt-oram-syndrome Atrio-digital syndrome Atriodigital dysplasia Cardiac-limb syndrome HOS Heart-hand syndrome, type 1 Ventriculo-radial syndrome https://medlineplus.gov/genetics/condition/homocystinuria Cystathionine beta synthase deficiency Homocysteinemia https://medlineplus.gov/genetics/condition/horizontal-gaze-palsy-with-progressive-scoliosis Familial horizontal gaze palsy with progressive scoliosis Familial idiopathic scoliosis associated with congenital encephalopathy Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze Gaze palsy, familial horizontal, with progressive scoliosis HGPPS Ophthalmoplegia, progressive external, and scoliosis https://medlineplus.gov/genetics/condition/horner-syndrome Bernard-Horner syndrome Horner's syndrome Oculosympathetic palsy Von Passow syndrome https://medlineplus.gov/genetics/condition/huntingtons-disease Huntington chorea Huntington chronic progressive hereditary chorea Huntington disease Huntington's chorea https://medlineplus.gov/genetics/condition/huntingtons-disease-like HDL HDL syndrome Huntington disease-like syndrome Huntington disease-like syndromes Huntington's disease phenocopies Huntington's disease phenocopy syndromes Huntington's disease-like syndrome Huntington's disease-like syndromes https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome HGPS Hutchinson-Gilford syndrome Progeria Progeria of childhood https://medlineplus.gov/genetics/condition/hyaline-fibromatosis-syndrome Inherited systemic hyalinosis Molluscum fibrosum Murray syndrome Puretic syndrome https://medlineplus.gov/genetics/condition/hyperferritinemia-cataract-syndrome Bonneau-Beaumont syndrome HHCS Hereditary hyperferritinemia with congenital cataracts Hereditary hyperferritinemia-cataract syndrome https://medlineplus.gov/genetics/condition/hyperkalemic-periodic-paralysis Adynamia episodica hereditaria Familial hyperkalemic periodic paralysis Gamstorp disease Gamstorp episodic adynamy HyperKPP HyperPP Primary hyperkalemic periodic paralysis https://medlineplus.gov/genetics/condition/hyperlysinemia Alpha-aminoadipic semialdehyde deficiency disease Familial hyperlysinemia Lysine alpha-ketoglutarate reductase deficiency disease Saccharopine dehydrogenase deficiency disease Saccharopinuria https://medlineplus.gov/genetics/condition/hypermanganesemia-with-dystonia Familial manganese-induced neurotoxicity HMNDYT https://medlineplus.gov/genetics/condition/hypermethioninemia Deficiency of methionine adenosyltransferase GNMT deficiency Glycine N-methyltransferase deficiency Hepatic methionine adenosyltransferase deficiency MAT deficiency MET Methionine adenosyltransferase deficiency Methioninemia S-adenosylhomocysteine hydrolase deficiency https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome CDC73-related disorders Familial cystic parathyroid adenomatosis Familial primary hyperparathyroidism with multiple ossifying jaw fibromas HPT-JT Hereditary hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism 2 https://medlineplus.gov/genetics/condition/hyperphosphatemic-familial-tumoral-calcinosis HFTC Hyperphosphatemia hyperostosis Hyperphosphatemia hyperostosis syndrome Hyperphosphatemia tumoral calcinosis Primary hyperphosphatemic tumoral calcinosis https://medlineplus.gov/genetics/condition/hyperprolinemia Proline oxidase deficiency Prolinemia Pyrroline carboxylate dehydrogenase deficiency Pyrroline-5-carboxylate dehydrogenase deficiency https://medlineplus.gov/genetics/condition/hypertension Essential hypertension High blood pressure Primary hypertension https://medlineplus.gov/genetics/condition/hypochondroplasia HCH Hypochondrodysplasia https://medlineplus.gov/genetics/condition/hypochromic-microcytic-anemia-with-iron-overload Microcytic anemia and hepatic iron overload Microcytic anemia with liver iron overload https://medlineplus.gov/genetics/condition/hypohidrotic-ectodermal-dysplasia Anhidrotic ectodermal dysplasia CST syndrome Christ-Siemens-Touraine syndrome HED https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis Familial hypokalemic periodic paralysis HOKPP HypoKPP HypoPP Primary hypokalemic periodic paralysis Westphall disease https://medlineplus.gov/genetics/condition/hypomagnesemia-with-secondary-hypocalcemia Familial primary hypomagnesemia with hypocalcuria HOMG HSH Hypomagnesemic tetany Intestinal hypomagnesemia 1 Intestinal hypomagnesemia with secondary hypocalcemia https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract HCC https://medlineplus.gov/genetics/condition/hypomyelination-with-brainstem-and-spinal-cord-involvement-and-leg-spasticity Aspartyl-tRNA synthetase deficiency HBSL Hypomyelination with brain stem and spinal cord involvement and leg spasticity https://medlineplus.gov/genetics/condition/hypophosphatasia Deficiency of alkaline phosphatase Phosphoethanolaminuria https://medlineplus.gov/genetics/condition/hystrix-like-ichthyosis-with-deafness HID syndrome Ichthyosis, hystrix-like, with deafness https://medlineplus.gov/genetics/condition/irak-4-deficiency IRAK4 deficiency Interleukin-1 receptor-associated kinase 4 deficiency https://medlineplus.gov/genetics/condition/ichthyosis-with-confetti CRIE Congenital reticular ichthyosiform erythroderma IWC Ichthyosis variegata https://medlineplus.gov/genetics/condition/idiopathic-infantile-hypercalcemia Autosomal recessive infantile hypercalcemia IIH Vitamin D hypersensitivity https://medlineplus.gov/genetics/condition/idiopathic-inflammatory-myopathy Idiopathic inflammatory myopathies Idiopathic inflammatory myositis Inflammatory myopathy, idiopathic https://medlineplus.gov/genetics/condition/idiopathic-pulmonary-fibrosis Cryptogenic fibrosing alveolitis IPF Idiopathic fibrosing alveolitis, chronic form Usual interstitial pneumonia https://medlineplus.gov/genetics/condition/imerslund-grasbeck-syndrome Defect of enterocyte intrinsic factor receptor Enterocyte cobalamin malabsorption Imerslund-Grasbeck syndrome Juvenile pernicious anemia with proteinuria due to selective intestinal malabsorption of vitamin B12 Megaloblastic anemia 1 https://medlineplus.gov/genetics/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome Autoimmunity-immunodeficiency syndrome, X-linked Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea Diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy IDDM-secretory diarrhea syndrome IPEX syndrome Immunodeficiency, polyendocrinopathy, and enteropathy, X-linked Insulin-dependent diabetes mellitus secretory diarrhea syndrome Polyendocrinopathy, immune dysfunction, and diarrhea, X-linked X-linked autoimmunity-allergic dysregulation syndrome XLAAD https://medlineplus.gov/genetics/condition/immune-thrombocytopenia Autoimmune thrombocytopenia Autoimmune thrombocytopenic purpura ITP Idiopathic thrombocytopenic purpura Immune thrombocytopenic purpura Werlhof disease https://medlineplus.gov/genetics/condition/inclusion-body-myopathy-with-early-onset-paget-disease-and-frontotemporal-dementia IBMPFD Inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia Inclusion body myopathy with early-onset Paget disease of bone and/or frontotemporal dementia Lower motor neuron degeneration with Paget-like bone disease Multisystem proteinopathy Muscular dystrophy, limb-girdle, with Paget disease of bone Pagetoid amyotrophic lateral sclerosis Pagetoid neuroskeletal syndrome https://medlineplus.gov/genetics/condition/incontinentia-pigmenti Bloch-Siemens syndrome Bloch-Siemens-Sulzberger Syndrome Bloch-Sulzberger Syndrome IP https://medlineplus.gov/genetics/condition/infantile-neuroaxonal-dystrophy INAD NBIA, PLA2G6-related Neurodegeneration with brain iron accumulation, PLA2G6-related Seitelberger disease Seitelberger's disease https://medlineplus.gov/genetics/condition/infantile-onset-ascending-hereditary-spastic-paralysis IAHSP Infantile onset ascending spastic paralysis Infantile-onset ascending hereditary spastic paraplegia https://medlineplus.gov/genetics/condition/infantile-onset-spinocerebellar-ataxia IOSCA Ohaha syndrome Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis https://medlineplus.gov/genetics/condition/inherited-thyroxine-binding-globulin-deficiency TBG deficiency https://medlineplus.gov/genetics/condition/intervertebral-disc-disease Discogenic disease Discogenic disorder Disorder of intervertebral disc IDD Intervertebral disc degeneration Intervertebral disc disorder Intervertebral disk degeneration https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction CIIP CIPO Chronic idiopathic intestinal pseudo-obstruction Congenital short bowel syndrome Enteric neuropathy Familial visceral myopathy Familial visceral neuropathy IPO Paralytic ileus Pseudo-obstruction of intestine Pseudointestinal obstruction syndrome Pseudoobstructive syndrome https://medlineplus.gov/genetics/condition/intrahepatic-cholestasis-of-pregnancy Gestational cholestasis Obstetric cholestasis Pregnancy-related cholestasis Recurrent intrahepatic cholestasis of pregnancy https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy Intranuclear nemaline rod myopathy Nemaline myopathy with exclusively intranuclear rods https://medlineplus.gov/genetics/condition/intrauterine-growth-restriction-metaphyseal-dysplasia-adrenal-hypoplasia-congenita-and-genital-anomalies IMAGe anomaly IMAGe association IMAGe syndrome https://medlineplus.gov/genetics/condition/iron-refractory-iron-deficiency-anemia Anemia, hypochromic microcytic, with defect in iron metabolism IRIDA IRIDA syndrome Iron-handling disorder, hereditary https://medlineplus.gov/genetics/condition/isobutyryl-coa-dehydrogenase-deficiency Deficiency of isobutyryl-CoA dehydrogenase IBD deficiency Isobutyryl-coenzyme A dehydrogenase deficiency https://medlineplus.gov/genetics/condition/isolated-duane-retraction-syndrome Co-contractive retraction syndrome Duane anomaly, isolated Duane retraction syndrome Duane syndrome Duane's syndrome Ocular retraction syndrome Stilling-Turk-Duane syndrome https://medlineplus.gov/genetics/condition/isolated-pierre-robin-sequence Glossoptosis, micrognathia, and cleft palate Pierre Robin syndrome Pierre-Robin syndrome Robin sequence Robin syndrome https://medlineplus.gov/genetics/condition/isolated-congenital-asplenia Asplenia, familial Asplenia, isolated congenital Congenital hypoplasia of spleen Hypoplasia of spleen Hyposplenia, isolated congenital ICAS Spenlic hypoplasia https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis Congenital ectopia lentis Ectopia lentis Lens subluxation Subluxation of lens https://medlineplus.gov/genetics/condition/isolated-growth-hormone-deficiency Dwarfism, growth hormone deficiency Dwarfism, pituitary Growth hormone deficiency dwarfism Isolated GH deficiency Isolated HGH deficiency Isolated human growth hormone deficiency Isolated somatotropin deficiency Isolated somatotropin deficiency disorder https://medlineplus.gov/genetics/condition/isolated-hyperckemia Elevated serum CPK Elevated serum creatine phosphokinase H-CK Idiopathic hyperCKemia Idiopathic persistent elevation of serum creatine kinase https://medlineplus.gov/genetics/condition/isolated-hyperchlorhidrosis Carbonic anhydrase XII deficiency https://medlineplus.gov/genetics/condition/isolated-lissencephaly-sequence Classical lissencephaly ILS LIS1 Lissencephaly type 1 Lissencephaly, classic Type 1 lissencephaly https://medlineplus.gov/genetics/condition/isolated-sulfite-oxidase-deficiency Encephalopathy due to sulfite oxidase deficiency ISOD Sulfocysteinuria https://medlineplus.gov/genetics/condition/isovaleric-acidemia IVA IVD deficiency Isovaleric acid-CoA dehydrogenase deficiency Isovaleryl-CoA dehydrogenase deficiency https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency Autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe combined immunodeficiency Autosomal recessive T-B+NK- SCID JAK3 SCID T cell-negative, B cell-positive, NK cell-negative SCID T-B+ severe combined immunodeficiency due to JAK3 deficiency https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome JWS https://medlineplus.gov/genetics/condition/jacobsen-syndrome 11q deletion disorder 11q deletion syndrome 11q terminal deletion disorder 11q- deletion syndrome 11q23 deletion disorder Jacobsen thrombocytopenia https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome Autosomal recessive long QT syndrome (LQTS) Cardio-auditory-syncope syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen Deafness, congenital, and functional heart disease JLNS Jervell-Lange Nielsen syndrome Prolonged QT interval in EKG and sudden death Surdo-cardiac syndrome https://medlineplus.gov/genetics/condition/joubert-syndrome Agenesis of cerebellar vermis CORS Cerebello-oculo-renal syndrome Cerebellooculorenal syndrome 1 Familial aplasia of the vermis JBTS Joubert-Bolthauser syndrome https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa Epidermolysis bullosa, junctional JEB https://medlineplus.gov/genetics/condition/juvenile-paget-disease Chronic congenital idiopathic hyperphosphatasemia Familial idiopathic hyperphosphatasemia Familial osteoectasia Hyperostosis corticalis deformans juvenilis Hyperphosphatasemia with bone disease Hyperphosphatasia, familial idiopathic Idiopathic hyperphosphatasia JPD Juvenile Paget's disease Osteochalasia desmalis familiaris Osteoectasia with hyperphosphatasia https://medlineplus.gov/genetics/condition/juvenile-idiopathic-arthritis Arthritis, juvenile rheumatoid JIA JRA Juvenile RA Juvenile chronic arthritis Juvenile rheumatoid arthritis Systemic juvenile rheumatoid arthritis https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy Adolescent myoclonic epilepsy Janz syndrome Petit mal, impulsive https://medlineplus.gov/genetics/condition/juvenile-polyposis-syndrome JIP JPS Juvenile intestinal polyposis https://medlineplus.gov/genetics/condition/juvenile-primary-lateral-sclerosis JPLS Juvenile PLS PLSJ Primary lateral sclerosis, juvenile https://medlineplus.gov/genetics/condition/juvenile-primary-osteoporosis Childhood-onset primary osteoporosis Idiopathic juvenile osteoporosis https://medlineplus.gov/genetics/condition/kbg-syndrome Macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy EIEE26 Early infantile epileptic encephalopathy 26 Epileptic encephalopathy, early infantile, 26 KCNB1-related epilepsy https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome Birk-Barel mental retardation dysmorphism syndrome Birk-Barel syndrome Intellectual disability, Birk-Barel type Intellectual disability-hypotonia-facial dysmorphism syndrome Mental retardation with hypotonia and facial dysmorphism https://medlineplus.gov/genetics/condition/kabuki-syndrome KMS Kabuki make-up syndrome Kabuki makeup syndrome Niikawa-Kuroki syndrome https://medlineplus.gov/genetics/condition/kallmann-syndrome Anosmic hypogonadism Anosmic idiopathic hypogonadotropic hypogonadism Hypogonadism with anosmia Hypogonadotropic hypogonadism and anosmia Hypogonadotropic hypogonadism-anosmia syndrome Kallman's syndrome https://medlineplus.gov/genetics/condition/kaufman-oculocerebrofacial-syndrome BPIDS Blepharophimosis-ptosis-intellectual disability syndrome KOS Oculocerebrofacial syndrome, Kaufman type https://medlineplus.gov/genetics/condition/kawasaki-disease Acute febrile mucocutaneous lymph node syndrome KD Kawasaki syndrome Mucocutaneous lymph node syndrome https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome KSS Kearns-Sayre mitochondrial cytopathy https://medlineplus.gov/genetics/condition/keratitis-ichthyosis-deafness-syndrome Ichthyosiform erythroderma, corneal involvement, and deafness KID syndrome Keratitis, ichthyosis, and deafness https://medlineplus.gov/genetics/condition/keratoconus Bulging cornea Conical cornea KC https://medlineplus.gov/genetics/condition/keratoderma-with-woolly-hair KWWH https://medlineplus.gov/genetics/condition/kidney-stones Calculus of kidney Calculus, kidney Calculus, renal Kidney calculi Kidney stone Nephrolith Nephrolithiasis Renal calculi Renal calculus Renal lithiasis Renal stones Urinary stones Urolithiasis https://medlineplus.gov/genetics/condition/kindler-epidermolysis-bullosa Congenital bullous poikiloderma Kindler syndrome Kindler's syndrome Poikiloderma of Kindler https://medlineplus.gov/genetics/condition/kleefstra-syndrome 9q subtelomeric deletion syndrome 9q- syndrome 9q34.3 deletion syndrome 9q34.3 microdeletion syndrome Chromosome 9q deletion syndrome https://medlineplus.gov/genetics/condition/klinefelter-syndrome 47,XXY syndrome Klinefelter syndrome (KS) Klinefelter's syndrome XXY syndrome XXY trisomy https://medlineplus.gov/genetics/condition/klippel-feil-syndrome Cervical fusion syndrome Cervical vertebral fusion Cervical vertebral fusion syndrome Congenital dystrophia brevicollis Dystrophia brevicollis congenita Fusion of cervical vertebrae KFS Klippel-Feil deformity Klippel-Feil sequence Vertebral cervical fusion syndrome https://medlineplus.gov/genetics/condition/klippel-trenaunay-syndrome Angio-osteohypertrophy syndrome Congenital dysplastic angiopathy KTS Klippel-Trenaunay disease https://medlineplus.gov/genetics/condition/kniest-dysplasia Kniest chondrodystrophy Kniest dysplasia, COL2A1-related Kniest syndrome https://medlineplus.gov/genetics/condition/knobloch-syndrome Retinal detachment and occipital encephalocele https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome 17q21.31 deletion syndrome 17q21.31 microdeletion syndrome Chromosome 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KDVS Koolen syndrome Microdeletion 17q21.31 syndrome Monosomy 17q21.31 https://medlineplus.gov/genetics/condition/krabbe-disease Diffuse globoid body sclerosis GALC deficiency GCL GLD Galactosylceramidase deficiency disease Galactosylceramide lipidosis Galactosylcerebrosidase deficiency Galactosylsphingosine lipidosis Psychosine lipidosis https://medlineplus.gov/genetics/condition/kuskokwim-syndrome Arthrogryposis-like syndrome Bruck syndrome 1 Kuskokwim disease https://medlineplus.gov/genetics/condition/l1-syndrome Adducted thumbs-mental retardation syndrome CRASH syndrome Corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia, hydrocephalus syndrome Mental retardation-clasped thumb syndrome X-linked hydrocephalus syndrome https://medlineplus.gov/genetics/condition/lama2-related-muscular-dystrophy LAMA2 MD Laminin alpha 2 deficiency Laminin alpha-2 deficient muscular dystrophy MDC1A Merosin-deficient muscular dystrophy Muscular dystrophy due to LAMA2 deficiency https://medlineplus.gov/genetics/condition/lmna-related-congenital-muscular-dystrophy L-CMD LMNA-related CMD MDCL Muscular dystrophy, congenital, LMNA-related https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome LADD syndrome Lacrimoauriculodentodigital syndrome Levy-Hollister syndrome https://medlineplus.gov/genetics/condition/lactate-dehydrogenase-deficiency Deficiency of lactate dehydrogenase LDH deficiency Lactate dehydrogenase subunit deficiencies https://medlineplus.gov/genetics/condition/lactose-intolerance Alactasia Hypolactasia Lactose malabsorption Milk sugar intolerance https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy Epilepsy, progressive myoclonic, Lafora Lafora body disease Lafora disease Lafora progressive myoclonic epilepsy Lafora type progressive myoclonic epilepsy Myoclonic epilepsy of Lafora Progressive myoclonic epilepsy type 2 Progressive myoclonus epilepsy, Lafora type https://medlineplus.gov/genetics/condition/laing-distal-myopathy Distal myopathy 1 Laing early-onset distal myopathy MPD1 https://medlineplus.gov/genetics/condition/lamellar-ichthyosis Collodion baby Collodion baby syndrome Ichthyoses, lamellar Ichthyosis, lamellar LI https://medlineplus.gov/genetics/condition/langer-mesomelic-dysplasia Dyschondrosteosis homozygous LMD Langer mesomelic dwarfism Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type https://medlineplus.gov/genetics/condition/langerhans-cell-histiocytosis Hashimoto-Pritzger disease Histiocytosis X LCH Langerhans cell granulomatosis https://medlineplus.gov/genetics/condition/laron-syndrome GH-R deficiency Growth hormone insensitivity syndrome Growth hormone receptor defect Growth hormone receptor deficiency Laron dwarfism Laron-type dwarfism Laron-type isolated somatotropin defect Laron-type pituitary dwarfism Laron-type short stature Pituitary dwarfism II Primary GH resistance Primary growth hormone resistance Severe GH insensitivity https://medlineplus.gov/genetics/condition/larsen-syndrome LRS https://medlineplus.gov/genetics/condition/laryngo-onycho-cutaneous-syndrome JEB-LOC LOC syndrome LOCS LOGIC syndrome Laryngoonychocutaneous syndrome Shabbir syndrome https://medlineplus.gov/genetics/condition/lateral-meningocele-syndrome LMS Lehman syndrome https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-i Biber-Haab-Dimmer dystrophy https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii Amyloid cranial neuropathy with lattice corneal dystrophy Amyloidosis V Amyloidosis due to mutant gelsolin Amyloidosis, Finnish type Amyloidosis, Meretoja type Familial amyloid polyneuropathy type IV Familial amyloidosis, Finnish type Gelsolin-related amyloidosis Kymenlaakso syndrome Lattice corneal dystrophy, gelsolin type Meretoja syndrome https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis Amaurosis, Leber congenital CRB Congenital amaurosis of retinal origin Congenital retinal blindness Dysgenesis neuroepithelialis retinae Hereditary epithelial dysplasia of retina Hereditary retinal aplasia Heredoretinopathia congenitalis LCA Leber abiotrophy Leber congenital tapetoretinal degeneration Leber's amaurosis https://medlineplus.gov/genetics/condition/leber-hereditary-optic-neuropathy Hereditary optic neuroretinopathy LHON Leber hereditary optic atrophy Leber optic atrophy Leber's hereditary optic neuropathy Leber's optic atrophy Leber's optic neuropathy https://medlineplus.gov/genetics/condition/left-ventricular-noncompaction Fetal myocardium Honeycomb myocardium Hypertrabeculation syndrome Isolated noncompaction of the ventricular myocardium LVHT LVNC Left ventricular hypertrabeculation Left ventricular myocardial noncompaction cardiomyopathy Left ventricular non-compaction Non-compaction of the left ventricular myocardium Noncompaction cardiomyopathy Spongy myocardium https://medlineplus.gov/genetics/condition/legg-calve-perthes-disease Aseptic necrosis of the capital femoral epiphysis Coxa plana LCP LCPD Legg-Perthes disease Osteochondrosis of the capital femoral epiphysis Perthes disease https://medlineplus.gov/genetics/condition/legius-syndrome NFLS Neurofibromatosis type 1-like syndrome https://medlineplus.gov/genetics/condition/leigh-syndrome Infantile subacute necrotizing encephalopathy Juvenile subacute necrotizing encephalopathy Leigh disease Leigh's disease Subacute necrotizing encephalomyelopathy https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome LGS https://medlineplus.gov/genetics/condition/leprosy Hansen disease Hansen's disease Infection due to Mycobacterium leprae https://medlineplus.gov/genetics/condition/leptin-receptor-deficiency Congenital deficiency of the leptin receptor Leptin receptor-related monogenic obesity Obesity due to leptin receptor gene deficiency Obesity, morbid, due to leptin receptor deficiency Obesity, morbid, nonsyndromic 2 https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome Choreoathetosis self-mutilation syndrome Complete HPRT deficiency Complete hypoxanthine-guanine phosphoribosyltransferase deficiency Deficiency of guanine phosphoribosyltransferase Deficiency of hypoxanthine phosphoribosyltransferase HGPRT deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency Hypoxanthine phosphoribosyltransferase deficiency Juvenile gout, choreoathetosis, mental retardation syndrome Juvenile hyperuricemia syndrome LND LNS Lesch-Nyhan disease Primary hyperuricemia syndrome Total HPRT deficiency Total hypoxanthine-guanine phosphoribosyl transferase deficiency X-linked hyperuricemia X-linked primary hyperuricemia X-linked uric aciduria enzyme defect https://medlineplus.gov/genetics/condition/leukocyte-adhesion-deficiency-type-1 LAD1 Leucocyte adhesion deficiency type 1 Leukocyte adhesion molecule deficiency type 1 https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-brainstem-and-spinal-cord-involvement-and-lactate-elevation LBSL Mitochondrial aspartyl-tRNA synthetase deficiency https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate COXPD12 Combined oxidative phosphorylation deficiency 12 LTBL https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter CACH syndrome Childhood ataxia with central nervous system hypomyelination Cree leukoencephalopathy Myelinosis centralis diffusa Vanishing white matter disease Vanishing white matter leukodystrophy https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia 46,XY disorder of sex development due to LH defects LCH LH resistance due to LH receptor deactivation Leydig cell agenesis Male hypergonadotropic hypogonadism due to LHCGR defect https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome LFS SBLA syndrome Sarcoma family syndrome of Li and Fraumeni Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome https://medlineplus.gov/genetics/condition/liddle-syndrome Pseudoaldosteronism Pseudoprimary hyperaldosteronism https://medlineplus.gov/genetics/condition/liebenberg-syndrome Brachydactyly with joint dysplasia Brachydactyly-elbow wrist dysplasia syndrome Carpal synostosis with dysplastic elbow joints and brachydactyly https://medlineplus.gov/genetics/condition/limb-girdle-muscular-dystrophy LGMD Limb-girdle syndrome Myopathic limb-girdle syndrome https://medlineplus.gov/genetics/condition/lipoid-proteinosis Hyalinosis cutis et mucosae Lipid proteinosis Lipoglycoproteinosis Lipoid proteinosis of Urbach and Wiethe Lipoidosis cutis et mucosae Lipoidproteinosis Lipoproteinosis Urbach-Wiethe disease Urbach-Wiethe lipoid proteinosis Urbach-Wiethe syndrome https://medlineplus.gov/genetics/condition/lissencephaly-with-cerebellar-hypoplasia LCH LIS2 LIS3 Lissencephaly 2 Lissencephaly 3 Lissencephaly syndrome, Norman-Roberts type Norman-Roberts syndrome https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome LDS Loeys-Dietz aortic aneurysm syndrome https://medlineplus.gov/genetics/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency LCHAD deficiency Long-chain 3-OH acyl-CoA dehydrogenase deficiency Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Trifunctional protein deficiency, type 1 https://medlineplus.gov/genetics/condition/lowe-syndrome Cerebrooculorenal syndrome Lowe oculocerebrorenal syndrome Oculocerebrorenal syndrome Oculocerebrorenal syndrome of Lowe Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency https://medlineplus.gov/genetics/condition/lujan-syndrome LFS Lujan-Fryns syndrome X-linked intellectual deficit with marfanoid habitus X-linked mental retardation with marfanoid habitus XLMR with marfanoid features https://medlineplus.gov/genetics/condition/lung-cancer Cancer of bronchus Cancer of the lung Lung malignancies Lung malignant tumors Lung neoplasms Malignant lung tumor Malignant neoplasm of lung Malignant tumor of lung Pulmonary cancer Pulmonary carcinoma Pulmonary neoplasms Respiratory carcinoma https://medlineplus.gov/genetics/condition/lyme-disease B. burgdorferi infection Borrelia burgdorferi infection Borreliosis, Lyme Infection by Borrelia burgdorferi Infection due to Borrelia burgdorferi sensu lato Lyme borreliosis https://medlineplus.gov/genetics/condition/lymphangioleiomyomatosis LAM Lymphangiomyomatosis https://medlineplus.gov/genetics/condition/lymphedema-distichiasis-syndrome Distichiasis-lymphedema syndrome Lymphedema with distichiasis https://medlineplus.gov/genetics/condition/lynch-syndrome Cancer family syndrome Familial nonpolyposis colon cancer HNPCC Hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal neoplasms https://medlineplus.gov/genetics/condition/lysinuric-protein-intolerance Congenital lysinuria Hyperdibasic aminoaciduria LPI https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency Acid esterase deficiency Acid lipase deficiency Familial visceral xanthomatosis Familial xanthomatosis LAL deficiency LIPA deficiency Primary familial xanthomatosis Primary familial xanthomatosis with adrenal calcification https://medlineplus.gov/genetics/condition/leri-weill-dyschondrosteosis DCO Dyschondrosteosis LWD Leri-Weill dyschondrosteosis https://medlineplus.gov/genetics/condition/mbd5-associated-neurodevelopmental-disorder 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome MAND MBD5 haploinsufficiency https://medlineplus.gov/genetics/condition/mda5-deficiency IFIH1 deficiency https://medlineplus.gov/genetics/condition/mecp2-duplication-syndrome Lubs X-linked mental retardation syndrome Trisomy Xq28 https://medlineplus.gov/genetics/condition/mecp2-related-severe-neonatal-encephalopathy Methyl-cytosine phosphate guanine binding protein 2 related severe neonatal encephalopathy Severe congenital encephalopathy due to MECP2 mutation Severe neonatal encephalopathy due to MECP2 mutations https://medlineplus.gov/genetics/condition/med13l-syndrome ASRAS Asadollahi-Rauch syndrome Cardiac anomalies-developmental delay-facial dysmorphism syndrome Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Intellectual disability and distinctive facial features with or without cardiac defects MED13L haploinsufficiency syndrome MED13L-related intellectual disability MRFACD https://medlineplus.gov/genetics/condition/megdel-syndrome 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 defect https://medlineplus.gov/genetics/condition/mn1-c-terminal-truncation-syndrome CEBALID Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development MCTT syndrome https://medlineplus.gov/genetics/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome MPV17-associated hepatocerebral MDS MTDPS6 Mitochondrial DNA depletion syndrome 6 NNH Navajo familial neurogenic arthropathy Navajo neurohepatopathy Navajo neuropathy https://medlineplus.gov/genetics/condition/myh9-related-disorder Autosomal dominant MYH9 spectrum disorders MYH9-related macrothrombocytopenias MYH9RD https://medlineplus.gov/genetics/condition/mabry-syndrome Hyperphosphatasia with mental retardation syndrome Hyperphosphatasia with seizures and neurologic deficit https://medlineplus.gov/genetics/condition/macrozoospermia Infertility associated with multi-tailed spermatozoa and excessive DNA Large-headed multiflagellar polyploid spermatozoa Spermatogenic failure 5 https://medlineplus.gov/genetics/condition/maffucci-syndrome Chondrodysplasia with hemangioma Chondroplasia angiomatosis Dyschondroplasia and cavernous hemangioma Enchondromatosis with hemangiomata Hemangiomata with dyschondroplasia Hemangiomatosis chondrodystrophica Kast syndrome Multiple angiomas and endochondromas https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome Conorenal dysplasia Conorenal syndrome MZSDS Mainzer-Saldino chondrodysplasia Mainzer-Saldino disease Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia SRTD9 Saldino-Mainzer dysplasia Saldino-Mainzer syndrome Short-rib thoracic dysplasia 9 https://medlineplus.gov/genetics/condition/majeed-syndrome CRM01 Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome MJDS https://medlineplus.gov/genetics/condition/mal-de-meleda Acroerythrokeratoderma Keratosis palmoplantaris transgrediens of Siemens Meleda disease Transgrediens palmoplantar keratoderma of Siemens https://medlineplus.gov/genetics/condition/malignant-hyperthermia Anesthesia related hyperthermia Hyperpyrexia, malignant Hyperthermia, malignant MHS Malignant hyperpyrexia https://medlineplus.gov/genetics/condition/malignant-migrating-partial-seizures-of-infancy EIEE14 Early infantile epileptic encephalopathy 14 MMPSI Malignant migrating partial epilepsy of infancy Migrating partial epilepsy of infancy Migrating partial seizures in infancy Migrating partial seizures of infancy https://medlineplus.gov/genetics/condition/malonyl-coa-decarboxylase-deficiency Deficiency of malonyl-CoA decarboxylase MCD deficiency Malonic aciduria Malonyl-coenzyme A decarboxylase deficiency https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia Mandibuloacral dysostosis https://medlineplus.gov/genetics/condition/mandibulofacial-dysostosis-with-microcephaly MFDGA MFDM Mandibulofacial dysostosis, Guion-Almeida type https://medlineplus.gov/genetics/condition/manitoba-oculotrichoanal-syndrome MOTA Marles Greenberg Persaud syndrome Marles syndrome Marles-Greenberg-Persaud syndrome https://medlineplus.gov/genetics/condition/mannose-binding-lectin-deficiency MBL deficiency MBL2 deficiency MBP deficiency Mannose-binding lectin protein deficiency Mannose-binding protein deficiency https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease BCKD deficiency Branched-chain alpha-keto acid dehydrogenase deficiency Branched-chain ketoaciduria Ketoacidemia MSUD https://medlineplus.gov/genetics/condition/marfan-syndrome MFS Marfan's syndrome https://medlineplus.gov/genetics/condition/marinesco-sjogren-syndrome Garland-Moorhouse syndrome Hereditary oligophrenic cerebello-lental degeneration MSS Marinesco-Garland syndrome https://medlineplus.gov/genetics/condition/maternally-inherited-diabetes-and-deafness Ballinger-Wallace syndrome Diabetes mellitus, type II, with deafness MIDD Maternally transmitted diabetes-deafness syndrome Mitochondrial inherited diabetes and deafness NIDDM with deafness Noninsulin-dependent diabetes mellitus with deafness https://medlineplus.gov/genetics/condition/maturity-onset-diabetes-of-the-young MODY https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome Congenital absence of the uterus and vagina (CAUV) Genital renal ear syndrome (GRES) MRKH syndrome Mullerian agenesis Mullerian aplasia Mullerian dysgenesis Rokitansky Kuster Hauser syndrome Rokitansky syndrome https://medlineplus.gov/genetics/condition/mccune-albright-syndrome Albright syndrome Albright's disease Albright's disease of bone Albright's syndrome Albright's syndrome with precocious puberty Albright-McCune-Sternberg syndrome Albright-Sternberg syndrome Fibrous dysplasia with pigmentary skin changes and precocious puberty MAS Osteitis fibrosa disseminata PFD POFD Polyostotic fibrous dysplasia https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome HMCS Hydrometrocolpos syndrome Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation Hydrometrocolpos-postaxial polydactyly syndrome Kaufman-McKusick syndrome MKS https://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome McLeod syndrome https://medlineplus.gov/genetics/condition/meckel-syndrome Dysencephalia splanchnocystica MKS Meckel-Gruber syndrome https://medlineplus.gov/genetics/condition/medium-chain-acyl-coa-dehydrogenase-deficiency ACADM deficiency MCAD deficiency MCADD MCADH deficiency Medium chain acyl-CoA dehydrogenase deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency https://medlineplus.gov/genetics/condition/medullary-cystic-kidney-disease-type-1 Autosomal dominant interstitial kidney disease Autosomal dominant medullary cystic kidney disease Polycystic kidneys, medullary type https://medlineplus.gov/genetics/condition/meesmann-corneal-dystrophy Corneal dystrophy, Meesmann epithelial Corneal dystrophy, juvenile epithelial of Meesmann Juvenile hereditary epithelial dystrophy MECD Meesman's corneal dystrophy Meesmann corneal epithelial dystrophy Meesmann epithelial corneal dystrophy https://medlineplus.gov/genetics/condition/megacystis-microcolon-intestinal-hypoperistalsis-syndrome Berdon syndrome MMIH syndrome MMIHS Megacystis, microcolon, hypoperistalsis syndrome https://medlineplus.gov/genetics/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts Infantile leukoencephalopathy and megalencephaly LVM Leukoencephalopathy with swelling and a discrepantly mild course Leukoencephalopathy with swelling and cysts MLC Vacuolating leukoencephalopathy Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Van der Knaap disease https://medlineplus.gov/genetics/condition/megalencephaly-capillary-malformation-syndrome M-CM MCAP MCMTC Macrocephaly cutis marmorata telangiectatica congenita Macrocephaly-capillary malformation syndrome Megalencephaly cutis marmorata telangiectatica congenita Megalencephaly-capillary malformation-polymicrogyria syndrome https://medlineplus.gov/genetics/condition/megalencephaly-polymicrogyria-polydactyly-hydrocephalus-syndrome MEG-PMG-POLY-HYD MPPH MPPH syndrome Megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome Ear, patella, short stature syndrome Microtia, absent patellae, micrognathia syndrome https://medlineplus.gov/genetics/condition/meige-disease Hereditary lymphedema II LMPH2 Late-onset lymphedema Lymphedema praecox Meige lymphedema https://medlineplus.gov/genetics/condition/melanoma Cutaneous melanoma Malignant melanoma https://medlineplus.gov/genetics/condition/melnick-needles-syndrome MNS Melnick-Needles osteodysplasty Osteodysplasty of Melnick and Needles https://medlineplus.gov/genetics/condition/melorheostosis Candle wax disease Flowing hyperostosis Hyperostosis, monomelic Leri syndrome Leri's disease Melorheostoses Melorheostosis of Leri Melorheostosis, isolated Periostitis; monomelic Rheostosis https://medlineplus.gov/genetics/condition/menkes-syndrome Copper transport disease Hypocupremia, congenital Kinky hair syndrome MK MNK Menkea syndrome Menkes disease Steely hair syndrome X-linked copper deficiency https://medlineplus.gov/genetics/condition/metachromatic-leukodystrophy ARSA deficiency Arylsulfatase A deficiency disease Cerebral sclerosis, diffuse, metachromatic form Cerebroside sulphatase deficiency disease Greenfield disease MLD Metachromatic leukoencephalopathy Sulfatide lipidosis Sulfatidosis https://medlineplus.gov/genetics/condition/metatropic-dysplasia Metatropic dwarfism Metatropic dysplasia type 1 https://medlineplus.gov/genetics/condition/methemoglobinemia-beta-globin-type Blue baby syndrome Congenital methemoglobinemia Hemoglobin M disease https://medlineplus.gov/genetics/condition/methylmalonic-acidemia Isolated methylmalonic acidemia MMA Methylmalonic aciduria https://medlineplus.gov/genetics/condition/methylmalonic-acidemia-with-homocystinuria Methylmalonic acidemia and homocystinemia Methylmalonic acidemia and homocystinuria Methylmalonic aciduria and homocystinuria Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA mutase and homocysteine:methyltetrahydrofolate methyltransferase Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA mutase and methionine synthase activities https://medlineplus.gov/genetics/condition/mevalonate-kinase-deficiency Hyper IgD syndrome Hyperimmunoglobulin D with periodic fever Hyperimmunoglobulinemia D Mevalonic aciduria Mevalonicaciduria Periodic fever, Dutch type https://medlineplus.gov/genetics/condition/microcephalic-osteodysplastic-primordial-dwarfism-type-ii MOPD2 MOPDII Majewski osteodysplastic primordial dwarfism type II Osteodysplastic primordial dwarfism type II https://medlineplus.gov/genetics/condition/microcephaly-seizures-and-developmental-delay EIEE10 Epileptic encephalopathy, early infantile, 10 MCSZ https://medlineplus.gov/genetics/condition/microcephaly-capillary-malformation-syndrome MIC-CAP syndrome https://medlineplus.gov/genetics/condition/microphthalmia Microphthalmos https://medlineplus.gov/genetics/condition/microphthalmia-with-linear-skin-defects-syndrome MCOPS7 MIDAS syndrome MLS syndrome Microphthalmia syndromic 7 Microphthalmia with linear skin lesions syndrome Microphthalmia, dermal aplasia, and sclerocornea Microphthalmia, syndromic 7 Syndromic microphthalmia-7 https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease Congenital enteropathy Congenital familial protracted diarrhea with enterocyte brush-border abnormalities Congenital microvillous atrophy Davidson disease Familial protracted enteropathy Intractable diarrhea of infancy MVID Microvillous atrophy Microvillous inclusion disease Microvillus atrophy with diarrhea 2 https://medlineplus.gov/genetics/condition/migraine Classic migraine Common migraine Disorder, migraine Headache migraine Headache migrainous Migraine disorder Migraine headache Migraine syndrome Migraines https://medlineplus.gov/genetics/condition/miller-syndrome Genee-Wiedemann acrofacial dysostosis Genee-Wiedemann syndrome Postaxial acrofacial dysostosis (POADS) https://medlineplus.gov/genetics/condition/miller-dieker-syndrome Lissencephaly due to 17p13.3 deletion MDLS MDS Miller-Dieker lissencephaly syndrome Monosomy 17p13.3 Telomeric deletion 17p https://medlineplus.gov/genetics/condition/milroy-disease Congenital familial lymphedema Hereditary lymphedema type I Milroy's disease Nonne-Milroy lymphedema https://medlineplus.gov/genetics/condition/mitochondrial-complex-i-deficiency NADH-coenzyme Q reductase deficiency NADH:Q(1) oxidoreductase deficiency https://medlineplus.gov/genetics/condition/mitochondrial-complex-iii-deficiency Isolated CoQ-cytochrome c reductase deficiency Ubiquinone-cytochrome c oxidoreductase deficiency https://medlineplus.gov/genetics/condition/mitochondrial-complex-v-deficiency ATP synthase deficiency https://medlineplus.gov/genetics/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes MELAS MELAS syndrome Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Mitochondrial myopathy, lactic acidosis, stroke-like episode Myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke https://medlineplus.gov/genetics/condition/mitochondrial-membrane-protein-associated-neurodegeneration MPAN Mitochondrial membrane protein-associated neurodegeneration due to C19orf12 mutation Mitochondrial protein-associated neurodegeneration NBIA4 Neurodegeneration with brain iron accumulation 4 https://medlineplus.gov/genetics/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease MEPOP MNGIE disease MNGIE syndrome Mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction Mitochondrial neurogastrointestinal encephalopathy syndrome Myoneurogastrointestinal encephalopathy syndrome OGIMD Oculogastrointestinal muscular dystrophy POLIP Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction Thymidine phosphorylase deficiency https://medlineplus.gov/genetics/condition/mitochondrial-trifunctional-protein-deficiency MTP deficiency TFP deficiency TPA deficiency Trifunctional protein deficiency, type 2 https://medlineplus.gov/genetics/condition/miyoshi-myopathy Distal muscular dystrophy, Miyoshi type MMD Miyoshi distal myopathy Miyoshi muscular dystrophy https://medlineplus.gov/genetics/condition/moebius-syndrome Congenital facial diplegia Congenital ophthalmoplegia and facial paresis Mobius syndrome Moebius congenital oculofacial paralysis Moebius sequence Moebius spectrum Möbius sequence https://medlineplus.gov/genetics/condition/molybdenum-cofactor-deficiency Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase Combined molybdoflavoprotein enzyme deficiency Combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency Deficiency of molybdenum cofactor MOCOD https://medlineplus.gov/genetics/condition/monilethrix Beaded hair https://medlineplus.gov/genetics/condition/monoamine-oxidase-a-deficiency Brunner syndrome Deficiency of monoamine oxidase A X-linked monoamine oxidase deficiency https://medlineplus.gov/genetics/condition/mosaic-variegated-aneuploidy-syndrome MVA syndrome Mosaic variegated aneuplody microcephaly syndrome Warburton-Anyane-Yeboa syndrome https://medlineplus.gov/genetics/condition/motion-sickness Airsickness Carsickness Riders' vertigo Seasickness https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome Hirschsprung disease-mental retardation syndrome MWS Microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease https://medlineplus.gov/genetics/condition/moyamoya-disease Cerebrovascular moyamoya disease Moya-moya disease Progressive intracranial arterial occlusion Progressive intracranial occlusive arteropathy Spontaneous occlusion of the Circle of Willis https://medlineplus.gov/genetics/condition/mucolipidosis-ii-alpha-beta I-cell disease Inclusion cell disease MLII Mucolipidosis II Mucolipidosis type II https://medlineplus.gov/genetics/condition/mucolipidosis-iii-alpha-beta ML III ML IIIA Mucolipidosis III Mucolipidosis III, variant Mucolipidosis IIIA Pseudo-Hurler polydystrophy https://medlineplus.gov/genetics/condition/mucolipidosis-iii-gamma ML IIIC Mucolipidosis III Mucolipidosis III, variant Mucolipidosis IIIC Mucolipidosis type III Pseudo-Hurler polydystrophy https://medlineplus.gov/genetics/condition/mucolipidosis-type-iv Ganglioside sialidase deficiency ML4 MLIV Sialolipidosis https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-i Hurler syndrome Hurler-Scheie syndrome IDUA deficiency MPS I MPS I H MPS I H-S MPS I S Mucopolysaccharidosis I Scheie syndrome https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-ii Hunter syndrome I2S deficiency Iduronate 2-sulfatase deficiency MPS II https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iii MPS III Mucopolysaccharidosis III Sanfilippo syndrome https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iv MPS IV Morquio disease Morquio syndrome Morquio's disease Morquio's syndrome Morquio-Brailsford disease Mucopolysaccharidosis (MPS) IV (A, B) https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vi Arylsulfatase B deficiency MPS VI MPS6 Maroteaux-Lamy syndrome Mucopolysaccharidosis 6 Mucopolysaccharidosis VI Polydystrophic dwarfism https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vii Beta-glucuronidase deficiency GUSB deficiency MPS VII MPS7 Mucopolysaccharidosis 7 Mucopolysaccharidosis VII Sly Syndrome https://medlineplus.gov/genetics/condition/muenke-syndrome FGFR3-associated coronal synostosis Muenke nonsyndromic coronal craniosynostosis https://medlineplus.gov/genetics/condition/multicentric-osteolysis-nodulosis-and-arthropathy Al-Aqeel Sewairi syndrome Hereditary multicentric osteolysis MONA NAO syndrome Nodulosis-arthropathy-osteolysis syndrome Torg syndrome Torg-Winchester syndrome https://medlineplus.gov/genetics/condition/multiminicore-disease Minicore disease Minicore myopathy MmD Multi-core congenital myopathy Multi-core disease Multi-minicore disease Multicore disease Multicore myopathy Multiminicore myopathy https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations Mucocutaneous venous malformations VMCM VMCM1 https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia Adenomatosis, familial endocrine Endocrine neoplasia, multiple Familial endocrine adenomatosis MEA MEN Multiple endocrine adenomatosis Multiple endocrine neoplasms https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia EDM1 EDM2 EDM3 EDM4 EDM5 Epiphyseal dysplasia, Fairbank type Epiphyseal dysplasia, Ribbing type Epiphyseal dysplasia, multiple, 1 Epiphyseal dysplasia, multiple, 2 Epiphyseal dysplasia, multiple, 3 Epiphyseal dysplasia, multiple, 4 Epiphyseal dysplasia, multiple, 5 MED Multiple epiphyseal dysplasia, autosomal dominant Multiple epiphyseal dysplasia, autosomal recessive RMED https://medlineplus.gov/genetics/condition/multiple-familial-trichoepithelioma Brooke-Fordyce trichoepitheliomas EAC Epithelioma adenoides cysticum of Brooke Familial multiple trichoepitheliomata Hereditary multiple benign cystic epithelioma MFT https://medlineplus.gov/genetics/condition/multiple-mitochondrial-dysfunctions-syndrome MMDS Multiple mitochondrial dysfunction syndrome https://medlineplus.gov/genetics/condition/multiple-myeloma Kahler disease Kahler's disease Kahler-Bozzolo disease Medullary plasmacytoma Myelomatosis Plasma cell dyscrasia Plasma cell myelomas https://medlineplus.gov/genetics/condition/multiple-pterygium-syndrome Escobar syndrome Familial pterygium syndrome Pterygium syndrome https://medlineplus.gov/genetics/condition/multiple-sclerosis Disseminated sclerosis MS https://medlineplus.gov/genetics/condition/multiple-sulfatase-deficiency Austin syndrome Juvenile sulfatidosis, Austin type MSD Mucosulfatidosis https://medlineplus.gov/genetics/condition/multiple-system-atrophy MSA OPCA Progressive autonomic failure with multiple system atrophy SDS Shy-Drager syndrome Sporadic olivopontocerebellar atrophy https://medlineplus.gov/genetics/condition/myd88-deficiency MYD88 deficiency Pyogenic bacterial infections due to MyD88 deficiency https://medlineplus.gov/genetics/condition/myasthenia-gravis MG https://medlineplus.gov/genetics/condition/mycosis-fungoides Alibert-Bazin syndrome Granuloma fungoides https://medlineplus.gov/genetics/condition/myhre-syndrome LAPS syndrome Laryngotracheal stenosis, arthropathy, prognathism, and short stature https://medlineplus.gov/genetics/condition/myoclonic-epilepsy-myopathy-sensory-ataxia MEMSA SCAE Spinocerebellar ataxia with epilepsy https://medlineplus.gov/genetics/condition/myoclonic-epilepsy-with-ragged-red-fibers Fukuhara disease MERRF MERRF syndrome Myoclonic epilepsy associated with ragged-red fibers Myoencephalopathy ragged-red fiber disease https://medlineplus.gov/genetics/condition/myoclonus-dystonia DYT11 Dystonia 11 Myoclonus-dystonia syndrome https://medlineplus.gov/genetics/condition/myofibrillar-myopathy Myofibrillar myopathies https://medlineplus.gov/genetics/condition/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme HML Hereditary myopathy with lactic acidosis Iron-sulfur cluster deficiency myopathy Myoglobinuria due to abnormal glycolysis Myopathy with deficiency of ISCU Myopathy with deficiency of succinate dehydrogenase and aconitase Myopathy with exercise intolerance, Swedish type https://medlineplus.gov/genetics/condition/myosin-storage-myopathy Autosomal dominant hyaline body myopathy https://medlineplus.gov/genetics/condition/myostatin-related-muscle-hypertrophy Muscle hypertrophy syndrome https://medlineplus.gov/genetics/condition/myotonia-congenita Congenital myotonia https://medlineplus.gov/genetics/condition/myotonic-dystrophy Dystrophia myotonica Myotonia atrophica Myotonia dystrophica https://medlineplus.gov/genetics/condition/meniere-disease Auditory vertigo Aural vertigo Meniere disease Meniere's disease Meniere's syndrome Ménière's disease Ménière's vertigo Otogenic vertigo Primary endolymphatic hydrops https://medlineplus.gov/genetics/condition/mullerian-aplasia-and-hyperandrogenism Biason-Lauber syndrome Mayer-Rokitansky-Küster-Hauser-Biason-Lauber syndrome Mayer-Rokitansky-Küster-Hauser-like syndrome Mullerian aplasia and hyperandrogenism Müllerian duct failure WNT4 Müllerian aplasia WNT4 Müllerian aplasia and ovarian dysfunction WNT4 deficiency https://medlineplus.gov/genetics/condition/n-acetylglutamate-synthase-deficiency Hyperammonemia, type III N-acetylglutamate synthetase deficiency NAGS deficiency https://medlineplus.gov/genetics/condition/ngly1-congenital-disorder-of-deglycosylation Congenital disorder of deglycosylation Deficiency of N-glycanase 1 NGLY1-CDDG https://medlineplus.gov/genetics/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis DPR Franceschetti-Jadassohn syndrome NFJ syndrome NFJS NFJS/DPR Naegeli syndrome Naegeli-Franceschetti-Jadassohn syndrome https://medlineplus.gov/genetics/condition/nager-syndrome AFD1 Acrofacial dysostosis 1, Nager type NAFD Nager acrofacial dysostosis Nager acrofacial dysostosis syndrome Preaxial acrofacial dysostosis Preaxial mandibulofacial dysostosis https://medlineplus.gov/genetics/condition/nail-patella-syndrome Fong disease Hereditary onycho-osteodysplasia Hereditary osteo-onychodysplasia Osterreicher syndrome Pelvic horn syndrome Turner-Kieser syndrome https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome ALDD Autoinflammation, lipodystrophy, and dermatosis syndrome JASL Japanese autoinflammatory syndrome with lipodystrophy NKJO Nakajo syndrome https://medlineplus.gov/genetics/condition/narcolepsy Gelineau syndrome Narcoleptic syndrome https://medlineplus.gov/genetics/condition/nearsightedness Close sighted Myopia Myopic Near-sightedness Nearsighted Short-sighted Short-sightedness https://medlineplus.gov/genetics/condition/nemaline-myopathy Myopathies, nemaline Myopathy, nemaline Nemaline body disease Nemaline rod disease Rod body disease Rod myopathy Rod-body myopathy https://medlineplus.gov/genetics/condition/nephronophthisis NPH NPHP https://medlineplus.gov/genetics/condition/netherton-syndrome Bamboo hair syndrome Comel-Netherton syndrome ILC Ichthyosiform erythroderma with hypotrichosis and hyper-IgE Ichthyosis linearis circumflexa NETH NS Netherton disease https://medlineplus.gov/genetics/condition/neuroblastoma NB https://medlineplus.gov/genetics/condition/neurodevelopmental-disorder-with-or-without-anomalies-of-the-brain-eye-or-heart NEDBEH RERE-related neurodevelopmental syndrome https://medlineplus.gov/genetics/condition/neuroferritinopathy Basal ganglia disease, adult-onset Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neurodegeneration with brain iron accumulation 3 https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 NF1 Neurofibromatosis 1 Peripheral neurofibromatosis Recklinghausen disease, nerve Von Recklinghausen disease https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2 BANF Bilateral acoustic neurofibromatosis Central neurofibromatosis Familial acoustic neuromas NF2 Neurofibromatosis 2 Neurofibromatosis type 2 merlin Neurofibromatosis type II Schwannoma, acoustic, bilateral https://medlineplus.gov/genetics/condition/neuromyelitis-optica Devic disease Devic neuromyelitis optica Devic syndrome Devic's disease Optic-spinal MS Opticospinal MS https://medlineplus.gov/genetics/condition/neuropathy-ataxia-and-retinitis-pigmentosa NARP NARP syndrome Neurogenic muscle weakness, ataxia, and retinitis pigmentosa Neuropathy, ataxia, and retinitis pigmentos https://medlineplus.gov/genetics/condition/neutral-lipid-storage-disease-with-myopathy NLSDM Neutral lipid storage disease without ichthyosis https://medlineplus.gov/genetics/condition/nicolaides-baraitser-syndrome NBS NCBRS https://medlineplus.gov/genetics/condition/niemann-pick-disease Lipid histiocytosis NPD Neuronal cholesterol lipidosis Neuronal lipidosis Sphingomyelin lipidosis Sphingomyelin/cholesterol lipidosis Sphingomyelinase deficiency https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome Ataxia-telangiectasia variant 1 Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency Seemanova syndrome https://medlineplus.gov/genetics/condition/non-alcoholic-fatty-liver-disease Fatty liver NAFLD NASH Non-alcoholic steatohepatitis Nonalcoholic fatty liver disease Nonalcoholic steatohepatitis Steatosis https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma Congenital ichthyosiform erythroderma Congenital nonbullous ichthyosiform erythroderma NBCIE NBIE NCIE Nonbullous ichthyosiform erythroderma https://medlineplus.gov/genetics/condition/nonketotic-hyperglycinemia Glycine encephalopathy NKH Non-ketotic hyperglycinemia https://medlineplus.gov/genetics/condition/nonsyndromic-aplasia-cutis-congenita ACC Congenital absence of skin on scalp Congenital defect of the skull and scalp Congenital ulcer of the newborn Scalp defect congenital https://medlineplus.gov/genetics/condition/nonsyndromic-congenital-nail-disorder-10 Claw-shaped nails NDNC10 Nail disorder, nonsyndromic congenital, 10 Onychauxis, hyponychia, and onycholysis https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss Isolated deafness Nonsyndromic deafness Nonsyndromic hearing impairment Nonsyndromic hearing loss and deafness https://medlineplus.gov/genetics/condition/nonsyndromic-holoprosencephaly Holoprosencephaly sequence Isolated HPE Isolated holoprosencephaly Non-syndromic, non-chromosomal HPE Non-syndromic, non-chromosomal holoprosencephaly Nonsyndromic HPE https://medlineplus.gov/genetics/condition/nonsyndromic-paraganglioma Chemodectoma https://medlineplus.gov/genetics/condition/noonan-syndrome Familial Turner syndrome Female pseudo-Turner syndrome Male Turner syndrome NS Noonan's syndrome Noonan-Ehmke syndrome Pseudo-Ullrich-Turner syndrome Turner phenotype with normal karyotype Turner syndrome in female with X chromosome Turner-like syndrome Ullrich-Noonan syndrome https://medlineplus.gov/genetics/condition/noonan-syndrome-with-multiple-lentigines Cardio-cutaneous syndrome Cardiomyopathic lentiginosis Diffuse lentiginosis LEOPARD syndrome Lentiginosis profusa Moynahan syndrome Multiple lentigines syndrome NSML Progressive cardiomyopathic lentiginosis https://medlineplus.gov/genetics/condition/norrie-disease Anderson-Warburg syndrome Atrophia bulborum hereditaria Congenital progressive oculo-acoustico-cerebral degeneration Episkopi blindness Fetal iritis syndrome Norrie syndrome Norrie's disease Norrie-Warburg syndrome Oligophrenia microphthalmus Pseudoglioma congenita Whitnall-Norman syndrome https://medlineplus.gov/genetics/condition/north-american-indian-childhood-cirrhosis NAIC https://medlineplus.gov/genetics/condition/obsessive-compulsive-disorder Anancastic neurosis Anankastic neurosis OCD Obsessive-compulsive neurosis https://medlineplus.gov/genetics/condition/obstructive-sleep-apnea Apnea, obstructive OSA OSAHS OSAS Obstructive apnea Obstructive sleep apnea syndrome SAHS Sleep apnea hypopnea syndrome Sleep apnea syndrome, obstructive Sleep apnea, obstructive Sleep apnea/hypopnea syndrome Upper airway resistance sleep apnea syndrome https://medlineplus.gov/genetics/condition/ochoa-syndrome Hydronephrosis with peculiar facial expression Hydronephrosis-inverted smile Inverted smile and occult neuropathic bladder Inverted smile-neurogenic bladder Partial facial palsy with urinary abnormalities UFS Urofacial Ochoa's syndrome Urofacial syndrome https://medlineplus.gov/genetics/condition/ocular-albinism Albinism, ocular OA XLOA https://medlineplus.gov/genetics/condition/oculocutaneous-albinism Albinism, oculocutaneous OCA https://medlineplus.gov/genetics/condition/oculodentodigital-dysplasia ODD syndrome ODDD ODOD Oculo-dento-digital dysplasia Oculo-dento-osseous dysplasia Oculodentodigital syndrome Oculodentoosseous dysplasia Osseous-oculo-dental dysplasia https://medlineplus.gov/genetics/condition/oculofaciocardiodental-syndrome MCOPS2 Microphthalmia, cataracts, radiculomegaly, and septal heart defects Microphthalmia, syndromic 2 OFCD syndrome Oculo-facio-cardio-dental syndrome https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy Dystrophy, oculopharyngeal muscular Muscular dystrophy, oculopharyngeal OPMD Oculopharyngeal dystrophy Progressive muscular dystrophy, oculopharyngeal type https://medlineplus.gov/genetics/condition/ohdo-syndrome-maat-kievit-brunner-type BMRS, MKB type Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type Ohdo syndrome, MKB type X-linked Ohdo syndrome https://medlineplus.gov/genetics/condition/ohdo-syndrome-say-barber-biesecker-young-simpson-variant BMRS SBBYS Blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type Ohdo syndrome, SBBYS variant Ohdo syndrome, Say-Barber-Biesecker variant SBBYS variant of Ohdo syndrome SBBYSS Say-Barber-Biesecker-Young-Simpson syndrome Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome Young-Simpson syndrome https://medlineplus.gov/genetics/condition/ollier-disease Dyschondroplasia Enchondromatosis Enchondromatosis, multiple, Ollier type Multiple cartilaginous enchondroses Multiple enchondromatosis Ollier's syndrome https://medlineplus.gov/genetics/condition/omenn-syndrome Familial reticuloendotheliosis Histiocytic medullary reticulosis Omenn's syndrome https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome Anophthalmia-Waardenburg syndrome Anophthalmia-syndactyly Anophthalmos with limb anomalies Anophthalmos-limb anomalies syndrome Microphthalmia with limb anomalies OAS Ophthalmoacromelic syndrome Syndactyly-anophthalmos syndrome Waardenburg anophthalmia syndrome https://medlineplus.gov/genetics/condition/opioid-addiction Opiate addiction Opiate dependence Opioid dependence https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome Hypertelorism with esophageal abnormalities and hypospadias Hypertelorism-hypospadias sydrome Hypospadias-dysphagia syndrome Opitz BBB syndrome Opitz BBB/G syndrome Opitz G syndrome Opitz syndrome Opitz-Frias syndrome https://medlineplus.gov/genetics/condition/optic-atrophy-type-1 ADOA Autosomal dominant optic atrophy Autosomal dominant optic atrophy Kjer type DOA Dominant optic atrophy Kjer type optic atrophy Kjer's optic atrophy Optic atrophy, Kjer type Optic atrophy, autosomal dominant Optic atrophy, hereditary, autosomal dominant Optic atrophy, juvenile https://medlineplus.gov/genetics/condition/oral-facial-digital-syndrome Dysplasia linguofacialis OFDS Oro-facio-digital syndrome Orodigitofacial dysostosis Orodigitofacial syndrome Orofaciodigital syndrome https://medlineplus.gov/genetics/condition/ornithine-transcarbamylase-deficiency Ornithine Carbamoyltransferase Deficiency Disease https://medlineplus.gov/genetics/condition/ornithine-translocase-deficiency HHH syndrome Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Triple H syndrome https://medlineplus.gov/genetics/condition/orthostatic-hypotension Hypotension, orthostatic Hypotension, postural Postural hypotension https://medlineplus.gov/genetics/condition/osteoarthritis Arthritis, degenerative Arthropathy Degenerative joint disease Degenerative polyarthritis Hypertrophic arthritis OA Osteoarthritis deformans Osteoarthrosis https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta Brittle bone disease Fragilitas ossium OI Vrolik disease https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia FGFR1-related osteoglophonic dysplasia Fairbank-Keats syndrome OGD Osteoglophonic dwarfism https://medlineplus.gov/genetics/condition/osteopetrosis Congenital osteopetrosis Marble bone disease Osteopetroses https://medlineplus.gov/genetics/condition/osteoporosis-pseudoglioma-syndrome OPPG Osteogenesis imperfecta, ocular form https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-1 Cranioorodigital syndrome FPO Faciopalatoosseous syndrome OPD syndrome, type 1 Oto-palato-digital syndrome, type I Taybi syndrome https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-2 Cranioorodigital syndrome FPO Faciopalatoosseous syndrome OPD syndrome, type 2 Oto-palato-digital syndrome, type II Taybi syndrome https://medlineplus.gov/genetics/condition/otospondylomegaepiphyseal-dysplasia Chondrodystrophy with sensorineural deafness Insley-Astley syndrome Mega-epiphyseal dwarfism Nance-Insley syndrome Nance-Sweeney chondrodysplasia OSMED Oto-spondylo-megaepiphyseal dysplasia https://medlineplus.gov/genetics/condition/otulipenia AIPDS Autoinflammation, panniculitis, and dermatosis syndrome ORAS OTULIN-related autoinflammatory syndrome https://medlineplus.gov/genetics/condition/ovarian-cancer Cancer of the ovary Malignant neoplasm of the ovary Malignant tumor of the ovary Ovarian carcinoma https://medlineplus.gov/genetics/condition/pacs1-syndrome Autosomal dominant intellectual disability-17 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome PACS1-related syndrome SHMS Schuurs-Hoeijmakers syndrome https://medlineplus.gov/genetics/condition/pdgfra-associated-chronic-eosinophilic-leukemia Chronic eosinophilic leukemia with FIP1L1-PDGFRA Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement Myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid/lymphoid neoplasms with PDGFRA rearrangement PDGFRA-associated myeloproliferative neoplasm https://medlineplus.gov/genetics/condition/pdgfrb-associated-chronic-eosinophilic-leukemia Chronic myelomonocytic leukemia with eosinophilia associated with t(5;12) Myeloid neoplasms associated with PDGFRB rearrangement Myeloid neoplasms with PDGFRB rearrangement Myeloid/lymphoid neoplasms with PDGFRB rearrangement https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation AGM1 deficiency CID due to PGM3 deficiency Combined immunodeficiency due to PGM3 deficiency Deficiency of N-acetylglucosamine-phosphate mutase 1 Deficiency of phosphoglucomutase 3 Immunodeficiency 23 Immunodeficiency with hyper IgE and cognitive impairment Immunodeficiency-vasculitis-myoclonus syndrome PGM3 deficiency PGM3-CDG PGM3-related congenital disorder of glycosylation Phosphoglucomutase 3 deficiency Phosphoglucomutase deficiency type 3 https://medlineplus.gov/genetics/condition/plcg2-associated-antibody-deficiency-and-immune-dysregulation Antibody deficiency and immune dysregulation, PLCG2-associated FACU FCAS3 Familial atypical cold urticaria Familial cold autoinflammatory syndrome 3 Familial cold urticaria with common variable immunodeficiency PLAID PLCG2 associated antibody deficiency and immune dysregulation https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation CDG Ia CDG1a CDGS1a Carbohydrate-deficient glycoprotein syndrome type Ia Congenital disorder of glycosylation type Ia Jaeken syndrome PMM deficiency PMM2-CDG Phosphomannomutase 2 deficiency https://medlineplus.gov/genetics/condition/ppm-x-syndrome MRXS13 PPMX X-linked mental retardation, syndromic 13 https://medlineplus.gov/genetics/condition/ppp2r5d-related-intellectual-disability Autosomal dominant mental retardation 35 https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia EPM1B PME with ataxia PRICKLE1-related progressive myoclonic epilepsy with ataxia Progressive myoclonic epilepsy 1B Progressive myoclonus epilepsy with ataxia https://medlineplus.gov/genetics/condition/pura-syndrome PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome https://medlineplus.gov/genetics/condition/pachyonychia-congenita Congenital pachyonychia Jackson-Lawler syndrome (PC-2) Jadassohn-Lewandowski syndrome (PC-1) Pachyonychia congenita syndrome https://medlineplus.gov/genetics/condition/paget-disease-of-bone Osseous Paget's disease Osteitis deformans PDB Paget disease, bone Paget's disease of bone https://medlineplus.gov/genetics/condition/pallister-hall-syndrome Hall-Pallister syndrome PHS https://medlineplus.gov/genetics/condition/pallister-killian-mosaic-syndrome Isochromosome 12p syndrome PKS Pallister-Killian syndrome Teschler-Nicola/Killian syndrome Tetrasomy 12p, mosaic https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness PPK with deafness PPK-deafness syndrome Palmoplantar hyperkeratosis-deafness syndrome Palmoplantar hyperkeratosis-hearing loss syndrome Palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-hearing loss syndrome https://medlineplus.gov/genetics/condition/pantothenate-kinase-associated-neurodegeneration NBIA1 Neurodegeneration with brain iron accumulation type 1 PKAN https://medlineplus.gov/genetics/condition/paramyotonia-congenita Eulenburg disease PMC Paralysis periodica paramyotonia Paramyotonia congenita of von Eulenburg Von Eulenberg's disease https://medlineplus.gov/genetics/condition/parathyroid-cancer Cancer of the parathyroid Cancer of the parathyroid gland Carcinoma of parathyroid gland Malignant neoplasm of parathyroid Malignant neoplasm of parathyroid gland Malignant parathyroid gland neoplasm Malignant parathyroid gland tumor Malignant parathyroid neoplasm Malignant parathyroid tumor Malignant tumor of parathyroid Malignant tumor of parathyroid gland Parathyroid adenocarcinoma Parathyroid carcinoma Parathyroid gland cancer Parathyroid gland carcinoma Parathyroid neoplasms https://medlineplus.gov/genetics/condition/parkes-weber-syndrome PKWS Parkes-Weber syndrome https://medlineplus.gov/genetics/condition/parkinsons-disease PD Parkinson disease Primary parkinsonism https://medlineplus.gov/genetics/condition/paroxysmal-extreme-pain-disorder Familial rectal pain PEPD PEXPD Submandibular, ocular, and rectal pain with flushing https://medlineplus.gov/genetics/condition/paroxysmal-nocturnal-hemoglobinuria Hemoglobinuria, paroxysmal Marchiafava-Micheli syndrome PNH https://medlineplus.gov/genetics/condition/partington-syndrome MRX36 PRTS Partington X-linked mental retardation syndrome Partington-Mulley syndrome X-linked intellectual deficit-dystonia-dysarthria X-linked mental retardation with dystonic movements, ataxia, and seizures https://medlineplus.gov/genetics/condition/pearson-syndrome Pearson marrow-pancreas syndrome https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2 APSS Acral peeling skin syndrome Peeling skin syndrome, acral type https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-disease Cockayne-Pelizaeus-Merzbacher disease HLD1 Hypomyelinating leukodystrophy, 1 PMD Sudanophilic leukodystrophy https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1 HLD2 Hypomyelinating leukodystrophy 2 PMLD - Pelizaeus Merzbacher like disease PMLD1 Pelizaeus Merzbacher like disease Pelizaeus-Merzbacher-like disease https://medlineplus.gov/genetics/condition/pendred-syndrome Autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter Deafness with goiter Goiter-deafness syndrome Pendred's syndrome https://medlineplus.gov/genetics/condition/periventricular-heterotopia Familial nodular heterotopia Periventricular nodular heterotopia https://medlineplus.gov/genetics/condition/permanent-neonatal-diabetes-mellitus PNDM https://medlineplus.gov/genetics/condition/peroxisomal-acyl-coa-oxidase-deficiency Acyl-coenzyme A oxidase deficiency Pseudo-NALD Pseudoadrenoleukodystrophy Pseudoneonatal adrenoleukodystrophy Straight-chain acyl-CoA oxidase deficiency https://medlineplus.gov/genetics/condition/perrault-syndrome Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian dysgenesis with sensorineural deafness https://medlineplus.gov/genetics/condition/perry-syndrome Parkinsonism with alveolar hypoventilation and mental depression https://medlineplus.gov/genetics/condition/persistent-mullerian-duct-syndrome PMDS Persistent oviduct syndrome https://medlineplus.gov/genetics/condition/peters-anomaly Irido-corneo-trabecular dysgenesis Peters congenital glaucoma https://medlineplus.gov/genetics/condition/peters-plus-syndrome Krause-Kivlin syndrome Krause-van Schooneveld-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters' plus syndrome Peters'-plus syndrome https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome Intestinal polyposis-cutaneous pigmentation syndrome Lentiginosis, perioral PJS Periorificial lentiginosis syndrome Peutz-Jeghers polyposis Polyposis, hamartomatous intestinal Polyposis, intestinal, II Polyps-and-spots syndrome https://medlineplus.gov/genetics/condition/pfeiffer-syndrome ACS V ACS5 Acrocephalosyndactyly, type V Craniofacial-skeletal-dermatologic dysplasia Noack syndrome https://medlineplus.gov/genetics/condition/phenylketonuria Folling disease Folling's disease PAH deficiency PKU Phenylalanine hydroxylase deficiency Phenylalanine hydroxylase deficiency disease https://medlineplus.gov/genetics/condition/phosphoglycerate-dehydrogenase-deficiency 3-PGDH deficiency 3-phosphoglycerate dehydrogenase deficiency PHGDH deficiency https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency PGK deficiency PGK1 deficiency Phosphoglycerate kinase 1 deficiency https://medlineplus.gov/genetics/condition/phosphoglycerate-mutase-deficiency Deficiency mutase phosphoglycerate GSD X GSD10 GSDX Glycogen storage disease X Myopathy due to phosphoglycerate mutase deficiency PGAM deficiency PGAMM deficiency https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity Gout, PRPS-related PRPP synthetase overactivity PRPP synthetase superactivity PRPS1 superactivity PRS overactivity PRS superactivity https://medlineplus.gov/genetics/condition/piebaldism PBT Piebald trait https://medlineplus.gov/genetics/condition/pilomatricoma Benign pilomatricoma Benign pilomatrixoma Calcifying epithelioma of Malherbe Malherbe calcifying epithelioma Pilomatrixoma https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome PHS PTHS https://medlineplus.gov/genetics/condition/platyspondylic-dysplasia-torrance-type PLSD-T Platyspondylic dysplasia, Torrance-Luton type Platyspondylic dysplasia, type Torrance, COL2A1-related Platyspondylic lethal skeletal dysplasia, Torrance type https://medlineplus.gov/genetics/condition/poikiloderma-with-neutropenia Clericuzio type poikiloderma with neutropenia Immune-deficient poikiloderma Poikiloderma with neutropenia, Clericuzio type https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy 4H syndrome ADDH Ataxia, delayed dentition, and hypomyelination Dentoleukoencephalopathy HCAHC HLD7 HLD8 Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum Hypomyelination, hypodontia, hypogonadotropic hypogonadism LO Leukodystrophy with oligodontia Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism Leukoencephalopathy-ataxia-hypodontia-hypomyelination Odontoleukodystrophy Pol III disorder Pol III-related hypomyelinating leukodystrophies Ribonucleic acid polymerase III-related leukodystrophy TACH Tremor-ataxia with central hypomyelination https://medlineplus.gov/genetics/condition/poland-syndrome Poland anomaly Poland sequence Poland syndactyly Poland's anomaly Poland's syndrome Unilateral defect of pectoralis major and syndactyly of the hand https://medlineplus.gov/genetics/condition/polycystic-kidney-disease PKD Polycystic renal disease https://medlineplus.gov/genetics/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy NHD Nasu-Hakola disease PLO-SL PLOSL Presenile dementia with bone cysts https://medlineplus.gov/genetics/condition/polycystic-ovary-syndrome Cystic disease of ovaries Cystic disease of ovary Multicystic ovaries PCO PCOD PCOS Polycystic ovarian disease Polycystic ovarian syndrome Sclerocystic ovarian degeneration Sclerocystic ovaries Sclerocystic ovary syndrome Stein-Leventhal syndrome https://medlineplus.gov/genetics/condition/polycythemia-vera Osler-Vaquez disease PRV PV Polycythemia ruba vera Primary polycythemia https://medlineplus.gov/genetics/condition/polymicrogyria PMG https://medlineplus.gov/genetics/condition/pompe-disease AMD Acid maltase deficiency Acid maltase deficiency disease Alpha-1,4-glucosidase deficiency Deficiency of alpha-glucosidase GAA deficiency GSD II GSD2 Glycogen storage disease type II Glycogenosis type II Pompe's disease https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia Congenital pontocerebellar hypoplasia OPCH PCH https://medlineplus.gov/genetics/condition/popliteal-pterygium-syndrome Facio-genito-popliteal syndrome PPS https://medlineplus.gov/genetics/condition/porphyria Hematoporphyria Porphyrin disorder https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia PAM Sodium channel myotonia https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome 17p11.2 duplication syndrome 17p11.2 microduplication syndrome Chromosome 17p11.2 duplication syndrome Dup(17)(p11.2p11.2) Duplication 17p11.2 syndrome PLS PTLS https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome Chromosome 11p11.2 deletion syndrome P11pDS Proximal 11p deletion syndrome https://medlineplus.gov/genetics/condition/prader-willi-syndrome PWS Prader-Labhart-Willi syndrome Willi-Prader syndrome https://medlineplus.gov/genetics/condition/preeclampsia Gestational proteinuric hypertension Pre-eclampsia Pregnancy-induced hypertension Toxemia of pregnancy https://medlineplus.gov/genetics/condition/prekallikrein-deficiency Congenital prekallikrein deficiency Fletcher factor deficiency Fletcher trait PKK deficiency https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency CUD Carnitine transporter deficiency Carnitine uptake defect Carnitine uptake deficiency Renal carnitine transport defect Systemic carnitine deficiency https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia Immotile cilia syndrome PCD https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency CoQ deficiency Coenzyme Q deficiency Primary CoQ10 deficiency Ubiquinone deficiency https://medlineplus.gov/genetics/condition/primary-familial-brain-calcification Bilateral striopallidodentate calcinosis Cerebrovascular ferrocalcinosis FIBGC Familial idiopathic basal ganglia calcification Striopallidodentate calcinosis https://medlineplus.gov/genetics/condition/primary-hyperoxaluria Congenital oxaluria D-glycerate dehydrogenase deficiency Glyceric aciduria Glycolic aciduria Hepatic AGT deficiency Hyperoxaluria, primary Oxalosis Oxaluria, primary Peroxisomal alanine:glyoxylate aminotransferase deficiency Primary oxalosis Primary oxaluria https://medlineplus.gov/genetics/condition/primary-localized-cutaneous-amyloidosis Amyloidosis IX PLCA Primary cutaneous amyloidosis https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia ACTH-independent macronodular adrenal hyperplasia ACTH-independent macronodular adrenocortical hyperplasia AIMAH Adrenal Cushing syndrome due to AIMAH Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia Corticotropin-independent macronodular adrenal hyperplasia PMAH Primary bilateral macronodular adrenal hyperplasia https://medlineplus.gov/genetics/condition/primary-myelofibrosis Agnogenic myeloid metaplasia Chronic idiopathic myelofibrosis Idiopathic myelofibrosis Myelofibrosis with myeloid metaplasia Myeloid metaplasia https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis PSC Sclerosing cholangitis https://medlineplus.gov/genetics/condition/primary-spontaneous-pneumothorax PSP Pneumothorax Spontaneous pneumothorax https://medlineplus.gov/genetics/condition/prion-disease Inherited human transmissible spongiform encephalopathies Prion protein diseases Prion-associated disorders Prion-induced disorders TSEs Transmissible dementias Transmissible spongiform encephalopathies https://medlineplus.gov/genetics/condition/progressive-external-ophthalmoplegia CPEO Chronic progressive external ophthalmoplegia PEO https://medlineplus.gov/genetics/condition/progressive-familial-heart-block Bundle branch block HBBD Hereditary bundle branch defect Hereditary bundle branch system defect Lenegre Lev disease Lev syndrome Lev's disease Lev-Lenègre disease PCCD Progressive cardiac conduction defect https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis ABCB11-related intrahepatic cholestasis ABCB4-related intrahepatic cholestasis ATP8B1-related intrahepatic cholestasis BSEP deficiency Byler disease Byler syndrome FIC1 deficiency Low γ-GT familial intrahepatic cholestasis MDR3 deficiency https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1 Baltic myoclonic epilepsy Baltic myoclonus Baltic myoclonus epilepsy EPM1 EPM1A Myoclonic epilepsy of Unverricht and Lundborg PME Progressive myoclonic epilepsy 1A Progressive myoclonus epilepsy type 1 ULD Unverricht-Lundborg syndrome https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia Cutaneous ossification Ectopic ossification Heterotopic ossification Myositis ossificans progressiva Osteodermia Osteoma cutis Osteosis cutis POH https://medlineplus.gov/genetics/condition/progressive-pseudorheumatoid-dysplasia Progressive pseudorheumatoid arthropathy of childhood Spondyloepiphyseal dysplasia tarda with progressive arthropathy https://medlineplus.gov/genetics/condition/progressive-supranuclear-palsy PSP Progressive supranuclear ophthalmoplegia Richardson's syndrome Steele-Richardson-Olszewski syndrome Supranuclear palsy, progressive https://medlineplus.gov/genetics/condition/prolidase-deficiency Hyperimidodipeptiduria Imidodipeptidase deficiency PD Peptidase deficiency https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency Obesity, early-onset, adrenal insufficiency, and red hair POMC deficiency https://medlineplus.gov/genetics/condition/propionic-acidemia Hyperglycinemia with ketoacidosis and leukopenia Ketotic glycinemia Ketotic hyperglycinemia PCC deficiency PROP Propionicacidemia Propionyl-CoA carboxylase deficiency https://medlineplus.gov/genetics/condition/prostate-cancer Cancer of the prostate Malignant neoplasm of the prostate Prostate carcinoma Prostate neoplasm Prostatic cancer Prostatic carcinoma Prostatic neoplasm https://medlineplus.gov/genetics/condition/protein-c-deficiency Hereditary thrombophilia due to protein C deficiency PROC deficiency https://medlineplus.gov/genetics/condition/protein-s-deficiency Hereditary thrombophilia due to protein S deficiency Thrombophilia due to protein S deficiency, autosomal dominant Thrombophilia due to protein S deficiency, autosomal recessive https://medlineplus.gov/genetics/condition/proteus-syndrome PS https://medlineplus.gov/genetics/condition/prothrombin-deficiency Dysprothrombinemia Factor II deficiency Hypoprothrombinemia https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia Prothrombin G20210A thrombophilia Prothrombin-related thrombophilia Thrombophilia 1 due to thrombin defect https://medlineplus.gov/genetics/condition/proximal-18q-deletion-syndrome 18q deletion syndrome 18q- syndrome Chromosome 18 deletion syndrome Chromosome 18 long arm deletion syndrome Chromosome 18q monosomy Chromosome 18q- syndrome Del(18q) syndrome Monosomy 18q https://medlineplus.gov/genetics/condition/pseudoachondroplasia PSACH Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency Butyrylcholinesterase deficiency Cholinesterase II deficiency Deficiency of butyrylcholine esterase Pseudocholinesterase E1 deficiency Succinylcholine sensitivity Suxamethonium sensitivity https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-1 PHA1 Pseudohypoaldosteronism type I https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-2 FHHt Familial hyperkalemic hypertension Familial hyperpotassemia and hypertension Familial hypertensive hyperkalemia Gordon hyperkalemia-hypertension syndrome Gordon's syndrome PHAII Pseudohypoaldosteronism type II https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum Groenblad-Strandberg syndrome Gronblad-Strandberg syndrome PXE https://medlineplus.gov/genetics/condition/psoriatic-arthritis Arthropathic psoriasis Psoriatic arthropathy https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis PAM https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension Ayerza syndrome FPPH Familial primary pulmonary hypertension Idiopathic pulmonary hypertension PAH PPH PPHT Primary pulmonary hypertension Sporadic primary pulmonary hypertension https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease Isolated pulmonary venous sclerosis Obstructive disease of the pulmonary veins PVOD Pulmonary venoocclusive disease Venous form of primary pulmonary hypertension https://medlineplus.gov/genetics/condition/purine-nucleoside-phosphorylase-deficiency Nucleoside phosphorylase deficiency PNP deficiency https://medlineplus.gov/genetics/condition/pyle-disease Metaphyseal dysplasia, Pyle type Pyle metaphyseal dysplasia Pyle's disease Pyle's metaphyseal dysplasia syndrome https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures PNPO deficiency PNPO-related neonatal epileptic encephalopathy PNPOD Pyridoxal 5′-phosphate-dependent epilepsy Pyridoxal phosphate-dependent seizures Pyridoxamine 5'-oxidase deficiency Pyridoxamine 5'-phosphate oxidase deficiency Pyridoxamine 5-prime-phosphate oxidase deficiency Pyridoxine-resistant seizures, PLP-sensitive https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy AASA dehydrogenase deficiency EPD Epilepsy, pyridoxine-dependent PDE Pyridoxine dependency Pyridoxine dependency with seizures Pyridoxine-dependent seizures Vitamin B6-dependent seizures https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency Ataxia with lactic acidosis, type II Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency Leigh syndrome due to pyruvate carboxylase deficiency PC deficiency Pyruvate carboxylase deficiency disease Type II ataxia with lactic acidosis https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency Ataxia with lactic acidosis Intermittent ataxia with pyruvate dehydrogenase deficiency PDH deficiency PDHC deficiency Pyruvate dehydrogenase complex deficiency https://medlineplus.gov/genetics/condition/pyruvate-kinase-deficiency PK deficiency PKD https://medlineplus.gov/genetics/condition/rab18-deficiency Martsolf syndrome Warburg micro syndrome https://medlineplus.gov/genetics/condition/rapadilino-syndrome Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate Radial and patellar aplasia Radial and patellar hypoplasia https://medlineplus.gov/genetics/condition/ren-related-kidney-disease Familial juvenile hyperuricemic nephropathy 2 https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy Cystic leukoencephalopathy without megalencephaly LBATC Leukoencephalopathy with bilateral anterior temporal lobe cysts RNASET2-deficient cystic leukoencephalopathy https://medlineplus.gov/genetics/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy MTDPS8A Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) RRM2B-MDS https://medlineplus.gov/genetics/condition/rabson-mendenhall-syndrome Mendenhall syndrome Pineal hyperplasia and diabetes mellitus syndrome Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities RMS https://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism DYT12 Dystonia 12 RDP RODP https://medlineplus.gov/genetics/condition/raynaud-phenomenon Raynaud disease Raynaud's Raynaud's disease Raynaud's phenomenon Raynaud's syndrome https://medlineplus.gov/genetics/condition/recombinant-8-syndrome Rec(8) syndrome Recombinant chromosome 8 syndrome San Luis Valley syndrome https://medlineplus.gov/genetics/condition/recurrent-hydatidiform-mole FRHM Familial recurrent hydatidiform mole Recurrent androgenetic hydatidiform mole Recurrent biparental hydatidiform mole https://medlineplus.gov/genetics/condition/refsum-disease ARD Adult Refsum disease CRD Classic Refsum disease HMSN IV HMSN type IV Hereditary motor and sensory neuropathy type IV Heredopathia atactica polyneuritiformis Phytanic acid storage disease Refsum syndrome Refsum's disease https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome Coloboma of optic nerve with renal disease Coloboma-ureteral-renal syndrome ONCR Optic coloboma, vesicoureteral reflux, and renal anomalies Optic nerve coloboma renal syndrome Papillorenal syndrome RCS Renal-coloboma syndrome https://medlineplus.gov/genetics/condition/renal-hypouricemia Familial renal hypouricaemia Familial renal hypouricemia Hereditary renal hypouricemia RHUC https://medlineplus.gov/genetics/condition/renal-tubular-acidosis-with-deafness AR dRTA with deafness AR dRTA with hearing loss Autosomal recessive distal renal tubular acidosis with deafness RTA with progressive nerve deafness Renal tubular acidosis type 1b Renal tubular acidosis with progressive nerve deafness Renal tubular acidosis, autosomal recessive, with progressive nerve deafness Renal tubular acidosis, distal, with progressive nerve deafness https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis Allanson Pantzar McLeod syndrome Primitive renal tubule syndrome https://medlineplus.gov/genetics/condition/renpenning-syndrome Golabi-Ito-Hall syndrome Hamel cerebropalatocardiac syndrome Porteous syndrome Sutherland-Haan syndrome X-linked intellectual deficit due to PQBP1 mutations X-linked intellectual deficit, Renpenning type https://medlineplus.gov/genetics/condition/restless-legs-syndrome Ekbom syndrome Ekbom's syndrome RLS Restless leg syndrome WED Willis-Ekbom disease https://medlineplus.gov/genetics/condition/retinal-arterial-macroaneurysm-with-supravalvular-pulmonic-stenosis FRAM Familial retinal arterial macroaneurysm RAMSVPS https://medlineplus.gov/genetics/condition/retinitis-pigmentosa Pigmentary retinopathy RP Rod-cone dystrophy Tapetoretinal degeneration https://medlineplus.gov/genetics/condition/retinoblastoma Glioma, retinal RB https://medlineplus.gov/genetics/condition/retroperitoneal-fibrosis Ormond disease Ormond's disease https://medlineplus.gov/genetics/condition/rett-syndrome Autism-dementia-ataxia-loss of purposeful hand use syndrome RTT Rett disorder Rett's disorder Rett's syndrome https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome Familial posterior fossa brain tumor of infancy Familial posterior fossa brain tumor syndrome Familial rhabdoid tumor Hereditary SWI/SNF deficiency syndrome RTPS Rhabdoid predisposition syndrome https://medlineplus.gov/genetics/condition/rheumatoid-arthritis Arthritis, rheumatoid RA https://medlineplus.gov/genetics/condition/rhizomelic-chondrodysplasia-punctata Chondrodysplasia punctata, rhizomelic RCDP RCP https://medlineplus.gov/genetics/condition/riboflavin-transporter-deficiency-neuronopathy BVVLS Brown-Vialetto-Van Laere syndrome Fazio-Londe disease Fazio-Londe syndrome Pontobulbar palsy with deafness Progressive bulbar palsy with sensorineural deafness Riboflavin transporter deficiency https://medlineplus.gov/genetics/condition/rigid-spine-muscular-dystrophy Congenital muscular dystrophy with spine rigidity syndrome Muscular dystrophy, congenital, merosin-positive, with early spine rigidity RSMD Rigid spinal muscular dystrophy Rigid spine congenital muscular dystrophy https://medlineplus.gov/genetics/condition/ring-chromosome-14-syndrome Ring 14 Ring 14 syndrome Ring chromosome 14 https://medlineplus.gov/genetics/condition/ring-chromosome-20-syndrome R(20) syndrome Ring 20 syndrome Ring chromosome 20 Ring chromosome 20 epilepsy syndrome https://medlineplus.gov/genetics/condition/rippling-muscle-disease RMD Rippling muscle syndrome https://medlineplus.gov/genetics/condition/roberts-syndrome Appelt-Gerken-Lenz syndrome Hypomelia hypotrichosis facial hemangioma syndrome Pseudothalidomide syndrome RBS Roberts-SC phocomelia syndrome SC phocomelia syndrome SC pseudothalidomide syndrome SC syndrome Tetraphocomelia-cleft palate syndrome https://medlineplus.gov/genetics/condition/robinow-syndrome Acral dysostosis with facial and genital abnormalities Fetal face syndrome Mesomelic dwarfism-small genitalia syndrome Robinow dwarfism Robinow's syndrome Robinow-Silverman syndrome Robinow-Silverman-Smith syndrome https://medlineplus.gov/genetics/condition/romano-ward-syndrome RWS WRS Ward-Romano syndrome https://medlineplus.gov/genetics/condition/rosacea Erythematotelangiectatic rosacea Granulomatous rosacea Ocular rosacea Papulopustular rosacea Phymatous rosacea https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome Congenital poikiloderma Poikiloderma atrophicans and cataract Poikiloderma congenitale Poikiloderma congenitale of Rothmund-Thomson RTS https://medlineplus.gov/genetics/condition/rotor-syndrome Hyperbilirubinemia, Rotor type https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome Broad thumb-hallux syndrome RSTS RTS https://medlineplus.gov/genetics/condition/russell-silver-syndrome RSS SRS Silver-Russell dwarfism Silver-Russell syndrome https://medlineplus.gov/genetics/condition/saddan Achondroplasia, severe, with developmental delay and acanthosis nigricans SADDAN dysplasia SSB syndrome Severe achondroplasia with developmental delay and acanthosis nigricans Skeleton-skin-brain syndrome https://medlineplus.gov/genetics/condition/satb2-associated-syndrome 2q32 deletion syndrome 2q33.1 microdeletion syndrome Chromosome 2q32-q33 deletion syndrome Glass syndrome SAS https://medlineplus.gov/genetics/condition/scn8a-related-epilepsy-with-encephalopathy EIEE13 Early infantile epileptic encephalopathy 13 SCN8A encephalopathy https://medlineplus.gov/genetics/condition/setbp1-haploinsufficiency-disorder MRD29 Mental retardation, autosomal dominant 29 SETBP1 LoF syndrome SETBP1 disorder SETBP1 loss of function syndrome SETBP1 related developmental delay SETBP1-related disorder SETBP1-related intellectual disability https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation CDG IIm CDG syndrome type IIm CDG-IIm CDG2M CDGIIm Congenital disorder of glycosylation, type IIm EIEE22 Epileptic encephalopathy, early infantile, 22 SLC35A2-CDG https://medlineplus.gov/genetics/condition/slc4a1-associated-distal-renal-tubular-acidosis Classic distal renal tubular acidosis RTA, classic type Renal tubular acidosis type I https://medlineplus.gov/genetics/condition/sost-related-sclerosing-bone-dysplasia Hyperostosis corticalis generalisata Hyperotosis corticalis generalisata familiaris Hyperphosphatasemia tarda SOST sclerosing bone dysplasia Sclerosteosis Van Buchem disease https://medlineplus.gov/genetics/condition/sox2-anophthalmia-syndrome AEG syndrome Anophthalmia-esophageal-genital syndrome SOX2-related eye disorders Syndromic microphthalmia 3 https://medlineplus.gov/genetics/condition/srd5a3-congenital-disorder-of-glycosylation CDG Iq CDG-Iq Congenital disorder of glycosylation type 1q SRD5A3-CDG https://medlineplus.gov/genetics/condition/stac3-disorder Myopathy, congenital, Bailey-Bloch Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia NAM Native American myopathy https://medlineplus.gov/genetics/condition/sting-associated-vasculopathy-with-onset-in-infancy SAVI STING-associated vasculopathy, infantile onset https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy DEE4 Developmental and epileptic encephalopathy 4 Developmental and epileptic encephalopathy, type 4 EIEE4 Early-infantile epileptic encephalopathy 4 STXBP1 encephalopathy with epilepsy STXBP1 epileptic encephalopathy STXBP1-related developmental and epileptic encephalopathy STXBP1-related early-onset encephalopathy STXBP1-related epileptic encephalopathy https://medlineplus.gov/genetics/condition/sucla2-related-mitochondrial-dna-depletion-syndrome MTDPS5 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome, encephalomyopathic form with or without methylmalonic aciduria, autosomal recessive, SUCLA2-related SUCLA2 deficiency SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Succinate-CoA ligase deficiency https://medlineplus.gov/genetics/condition/suclg1-related-mitochondrial-dna-depletion-syndrome Fatal infantile lactic acidosis with methylmalonic aciduria MTDPS9 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) SUCLG1 deficiency SUCLG1-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria SUCLG1-related succinyl-CoA ligase deficiency Succinate-coenzyme A ligase deficiency https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability MRD5 Mental retardation, autosomal dominant 5 https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome ACS III ACS3 Acrocephalosyndactyly III Acrocephalosyndactyly, type III Acrocephaly, skull asymmetry, and mild syndactyly Chotzen syndrome Dysostosis craniofacialis with hypertelorism SCS https://medlineplus.gov/genetics/condition/sandhoff-disease Beta-hexosaminidase-beta-subunit deficiency GM2 gangliosidosis, type 2 GM2 gangliosidosis, type II Hexosaminidase A and B deficiency disease Sandhoff-Jatzkewitz-Pilz disease Total hexosaminidase deficiency https://medlineplus.gov/genetics/condition/saul-wilson-syndrome Microcephalic osteodysplastic dysplasia Microcephalic osteodysplastic dysplasia Saul Wilson type https://medlineplus.gov/genetics/condition/scalp-ear-nipple-syndrome Finlay-Marks syndrome Hereditary syndrome of lumpy scalp, odd ears, and rudimentary nipples SEN syndrome SENS https://medlineplus.gov/genetics/condition/schimke-immuno-osseous-dysplasia Immunoosseous dysplasia, Schimke type SIOD SMARCAL1-related immuno-osseous dysplasia (Schimke type) Schimke immunoosseous dysplasia https://medlineplus.gov/genetics/condition/schindler-disease Alpha-N-acetylgalactosaminidase deficiency Alpha-NAGA deficiency Alpha-galNAc deficiency, Schindler type Alpha-galactosidase B deficiency Angiokeratoma corporis diffusum-glycopeptiduria GALB deficiency Kanzaki disease Lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum NAGA deficiency Neuroaxonal dystrophy, Schindler type Neuronal axonal dystrophy, Schindler type https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome Schinzel Giedion syndrome Schinzel-Giedion midface retraction syndrome https://medlineplus.gov/genetics/condition/schizoaffective-disorder Schizo-affective psychosis Schizo-affective type schizophrenia Schizoaffective psychosis Schizoaffective schizophrenia Schizophrenia, schizo-affective type Schizophreniform psychosis, affective type https://medlineplus.gov/genetics/condition/schizophrenia Dementia praecox https://medlineplus.gov/genetics/condition/schwannomatosis Multiple neurilemmomas Multiple schwannomas Neurilemmomatosis Neurilemmomatosis, congenital cutaneous Neurinomatosis Neurofibromatosis type 3 https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome Chondrodystrophic myotonia Myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities SJA syndrome SJS SJS1 Schwartz-Jampel syndrome, type 1 Schwartz-Jampel-Aberfeld syndrome https://medlineplus.gov/genetics/condition/seasonal-affective-disorder Affective disorder, seasonal Depression in a seasonal pattern Depression; seasonal Major depressive disorder with a seasonal pattern SAD Seasonal depression Seasonal mood disorder https://medlineplus.gov/genetics/condition/senior-loken-syndrome Loken-Senior syndrome Renal dysplasia and retinal aplasia Renal-retinal syndrome Senior-Loken syndrome https://medlineplus.gov/genetics/condition/sepiapterin-reductase-deficiency Dopa-responsive dystonia due to sepiapterin reductase deficiency SPR deficiency https://medlineplus.gov/genetics/condition/septo-optic-dysplasia De Morsier syndrome SOD Septooptic dysplasia https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia Congenital agranulocytosis Congenital neutropenia Infantile genetic agranulocytosis Kostmann disease Kostmann's agranulocytosis Kostmann's syndrome Severe infantile genetic neutropenia https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome Arthrogryposis multiplex congenita, distal, type 2B DA2B Distal arthrogryposis type 2B SHS https://medlineplus.gov/genetics/condition/shingles Herpes zoster Zoster https://medlineplus.gov/genetics/condition/short-qt-syndrome SQTS https://medlineplus.gov/genetics/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay Growth retardation-Rieger anomaly Lipodystrophy, partial, with Rieger anomaly and short stature SHORT syndrome Short stature-hyperextensibility-Rieger anomaly-teething delay https://medlineplus.gov/genetics/condition/short-chain-acyl-coa-dehydrogenase-deficiency ACADS deficiency Deficiency of butyryl-CoA dehydrogenase Lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency SCAD deficiency SCADH deficiency Short-chain acyl-coenzyme A dehydrogenase deficiency https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency 2-MBADD 2-MBCD deficiency 2-MBG 2-methylbutyryl glycinuria 2-methylbutyryl-CoA dehydrogenase deficiency 2-methylbutyryl-coenzyme A dehydrogenase deficiency SBCADD Short/branched-chain acyl-CoA dehydrogenase deficiency https://medlineplus.gov/genetics/condition/shprintzen-goldberg-syndrome Marfanoid-craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome https://medlineplus.gov/genetics/condition/shwachman-diamond-syndrome Congenital lipomatosis of pancreas Metaphyseal chondrodysplasia, Shwachman type SDS Shwachman syndrome Shwachman-Bodian syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond-Oski Syndrome https://medlineplus.gov/genetics/condition/sialidosis Cherry red spot myoclonus syndrome Mucolipidosis I Mucolipidosis type I Myoclonus cherry red spot syndrome https://medlineplus.gov/genetics/condition/sialuria French type sialuria Sialuria, French type https://medlineplus.gov/genetics/condition/sick-sinus-syndrome SND SSS Sinus node disease Sinus node dysfunction https://medlineplus.gov/genetics/condition/sickle-cell-disease HbS disease Hemoglobin S disease SCD Sickle cell disorders Sickling disorder due to hemoglobin S https://medlineplus.gov/genetics/condition/silver-syndrome SPG17 Silver spastic paraplegia syndrome Spastic paraplegia 17 Spastic paraplegia with amyotrophy of hands and feet https://medlineplus.gov/genetics/condition/simpson-golabi-behmel-syndrome DGSX Mental retardation-overgrowth syndrome SDYS SGBS SGBS1 Simpson dysplasia syndrome Simpson syndrome Simpson-Golabi-Behmel syndrome type 1 https://medlineplus.gov/genetics/condition/sitosterolemia Beta-sitosterolemia Phytosterolaemia Phytosterolemia Plant sterol storage disease Sitosterolaemia https://medlineplus.gov/genetics/condition/sjogren-syndrome Dacryosialoadenopathia atrophicans Gougerot-Houwer-Sjogren syndrome Gougerot-Sjogren syndrome Keratoconjunctivitis sicca Keratoconjunctivitis sicca-xerostomia Secreto-inhibitor-xerodermostenosis Sicca syndrome Sjogren's syndrome Sjogren-Gougerot syndrome https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome Congenital icthyosis mental retardation spasticity syndrome FALDH deficiency Fatty aldehyde dehydrogenase deficiency Ichthyosis oligophrenia syndrome SLS Sjogren-Larsson syndrome https://medlineplus.gov/genetics/condition/small-fiber-neuropathy SFN SFNP Small nerve fiber neuropathy https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome MINDS syndrome Macrocephaly, seizures, intellectual disability, umbilical hernia, and facial dysmorphism Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome SKS https://medlineplus.gov/genetics/condition/smith-lemli-opitz-syndrome 7-dehydrocholesterol reductase deficiency RSH Syndrome SLO syndrome SLOS https://medlineplus.gov/genetics/condition/smith-magenis-syndrome 17p- syndrome 17p11.2 monosomy Chromosome 17p deletion syndrome Deletion 17p syndrome Partial monosomy 17p SMS https://medlineplus.gov/genetics/condition/snijders-blok-campeau-syndrome IDDMSF Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies SNIBCPS https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome Mental retardation, X-linked, syndromic, Snyder-Robinson type SRS Snyder-Robinson X-linked mental retardation syndrome Spermine synthase deficiency https://medlineplus.gov/genetics/condition/sotos-syndrome Cerebral gigantism Sotos sequence Sotos' syndrome https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-11 Autosomal recessive spastic paraplegia complicated with thin corpus callosum Autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum HSP-TCC SPG11-related hereditary spastic paraplegia with thin corpus callosum https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-15 Autosomal recessive spastic paraplegia 15 Kjellin syndrome SPG15 Spastic paraplegia and retinal degeneration https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 Hereditary X-linked recessive spastic paraplegia Spastic paraplegia 2 X linked recessive hereditary spastic paraplegia https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31 Autosomal dominant spastic paraplegia 31 SPG31 Spastic paraplegia 31 https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-3a SPG3A Spastic paraplegia 3 Spastic paraplegia 3A https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-4 SPG4 Spastic paraplegia 4 https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-49 Autosomal recessive spastic paraplegia type 49 SPG49 Spastic paraplegia 49, autosomal recessive https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-5a Autosomal recessive spastic paraplegia 5A SPG5A Spastic paraplegia 5A https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 Hereditary spastic paraplegia, paraplegin type Spastic paraplegia 7 https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-8 Autosomal dominant spastic paraplegia 8 Hereditary spastic paraplegia 8 SPG8 Spastic paraplegia 8 https://medlineplus.gov/genetics/condition/spina-bifida Cleft spine Open spine Rachischisis Spinal dysraphism https://medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy Bulbospinal muscular atrophy, X-linked KD Kennedy disease Kennedy spinal and bulbar muscular atrophy Kennedy's disease SBMA X-linked spinal and bulbar muscular atrophy https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy 5q SMA Proximal SMA SMA SMA-associated SMA Spinal amyotrophies Spinal amyotrophy Spinal muscle degeneration Spinal muscle wasting https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-lower-extremity-predominance Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Kugelberg-Welander syndrome, autosomal dominant Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures SMA-LED Spinal muscular atrophy, childhood, proximal, autosomal dominant Spinal muscular atrophy, juvenile, proximal, autosomal dominant Spinal muscular atrophy, lower extremity, autosomal dominant Spinal muscular atrophy, lower extremity, dominant https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy Hereditary myoclonus with progressive distal muscular atrophy Jankovic-Rivera syndrome SMA-PME SMAPME https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1 Autosomal recessive distal spinal muscular atrophy 1 DHMN6 DSMA1 Diaphragmatic spinal muscular atrophy Distal hereditary motor neuronopathy type VI Distal spinal muscular atrophy type 1 HMN6 HMNVI SIANRF SMARD1 Severe infantile axonal neuropathy with respiratory failure Spinal muscular atrophy with respiratory distress https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-1 Olivopontocerebellar atrophy I SCA1 Spinocerebellar atrophy I Type 1 spinocerebellar ataxia https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-2 SCA2 https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-3 Azorean ataxia Azorean disease MJD Machado-Joseph disease SCA3 https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-36 Asidan ataxia Costa de Morte ataxia SCA36 Spinocerebellar ataxia 36 https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-6 SCA6 Type 6 spinocerebellar ataxia https://medlineplus.gov/genetics/condition/spondylocarpotarsal-synostosis-syndrome Congenital scoliosis with unilateral unsegmented bar Congenital synspondylism SCT SCT syndrome Spondylocarpotarsal syndrome Vertebral fusion with carpal coalition https://medlineplus.gov/genetics/condition/spondylocostal-dysostosis Jarcho-Levin syndrome SCDO https://medlineplus.gov/genetics/condition/spondyloenchondrodysplasia-with-immune-dysregulation Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia Roifman-Melamed syndrome Roifman–Costa syndrome SPENCDI https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-congenita SED congenita SED, congenital type SEDC SEDc Spondyloepiphyseal dysplasia congenita (SEDC), COL2A1-related Spondyloepiphyseal dysplasia, congenital type https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-marked-metaphyseal-changes SED with marked metaphyseal changes Spondyloepimetaphyseal dysplasia, COL2A1-related https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening Czech dysplasia, metatarsal type Progressive pseudorheumatoid dysplasia with hypoplastic toes SED with metatarsal shortening SED with metatarsal shortening, COL2A1-related Spondyloepiphyseal dysplasia with precocious osteoarthritis https://medlineplus.gov/genetics/condition/spondyloperipheral-dysplasia Spondyloperipheral dysplasia, COL2A1-related https://medlineplus.gov/genetics/condition/spondylothoracic-dysostosis Jarcho-Levin syndrome STD https://medlineplus.gov/genetics/condition/sporadic-hemiplegic-migraine Non-familial hemiplegic migraine SHM https://medlineplus.gov/genetics/condition/stargardt-macular-degeneration Juvenile macular degeneration Macular dystrophy with flecks, type 1 STGD Stargardt disease https://medlineplus.gov/genetics/condition/steatocystoma-multiplex Multiple sebaceous cysts Multiplex steatocystoma Sebocystomatosis https://medlineplus.gov/genetics/condition/stevens-johnson-syndrome-toxic-epidermal-necrolysis Drug-induced Stevens Johnson syndrome Lyell's syndrome Mycoplasma-induced Stevens Johnson syndrome Stevens-Johnson syndrome Stevens-Johnson syndrome toxic epidermal necrolysis spectrum Toxic epidermal necrolysis https://medlineplus.gov/genetics/condition/stickler-syndrome Arthroophthalmopathy Hereditary arthro-ophthalmo-dystrophy Hereditary arthro-ophthalmopathy Stickler dysplasia https://medlineplus.gov/genetics/condition/stormorken-syndrome Stormorken-Sjaastad-Langslet syndrome Thrombocytopathy, asplenia, and miosis https://medlineplus.gov/genetics/condition/sturge-weber-syndrome Angiomatosis aculoorbital-thalamic syndrome Encephalofacial hemangiomatosis Encephalofacial hemangiomatosis syndrome Meningo-oculo-facial angiomatosis Meningofacial angiomatosis-cerebral calcification syndrome Neuroretinoangiomatosis Phakomatosis, Sturge-Weber SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe syndrome https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome Neonatal Schwartz-Jampel syndrome SJS2 STWS SWS Schwartz-Jampel type 2 syndrome Stuve-Wiedemann dysplasia Stuve-Wiedemann syndrome Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome https://medlineplus.gov/genetics/condition/subcortical-band-heterotopia DC syndrome Double cortex syndrome Heterotopia, subcortical band SBH SCLH Subcortical laminar heterotopia https://medlineplus.gov/genetics/condition/succinic-semialdehyde-dehydrogenase-deficiency 4-hydroxybutyric aciduria Gamma-hydroxybutyric acidemia Gamma-hydroxybutyric aciduria SSADH deficiency https://medlineplus.gov/genetics/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency 3-oxoacid CoA transferase deficiency Ketoacidosis due to SCOT deficiency SCOT deficiency Succinyl-CoA 3-oxoacid transferase deficiency Succinyl-CoA:3-oxoacid CoA transferase deficiency Succinyl-CoA:acetoacetate transferase deficiency https://medlineplus.gov/genetics/condition/sudden-infant-death-with-dysgenesis-of-the-testes-syndrome SIDDT https://medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis Aortic stenosis, supravalvular SVAS Stenosis, aortic supravalvular Stenosis, supravalvular aortic Supravalvar aortic stenosis Supravalvular stenosis, aortic https://medlineplus.gov/genetics/condition/surfactant-dysfunction Interstitial lung disease due to surfactant deficiency Pulmonary surfactant metabolism dysfunction Surfactant metabolism deficiency https://medlineplus.gov/genetics/condition/swyer-syndrome 46,XY CGD 46,XY complete gonadal dysgenesis 46,XY sex reversal Gonadal dysgenesis, 46,XY Pure gonadal dysgenesis 46,XY XY pure gonadal dysgenesis https://medlineplus.gov/genetics/condition/systemic-lupus-erythematosus Disseminated lupus erythematosus LE syndrome Libman-Sacks disease Lupus SLE https://medlineplus.gov/genetics/condition/systemic-mastocytosis Mast cell disease, systemic Mastocytosis, systemic Systemic mast cell disease Systemic mast-cell disease Systemic mastocytoses Systemic tissue mast cell disease https://medlineplus.gov/genetics/condition/systemic-scleroderma Familial progressive scleroderma Progressive scleroderma Systemic sclerosis https://medlineplus.gov/genetics/condition/sezary-syndrome Sezary erythroderma Sezary syndrome Sezary's lymphoma https://medlineplus.gov/genetics/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy Alymphoid cystic thymic dysgenesis Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency Pignata Guarino syndrome Winged helix deficiency https://medlineplus.gov/genetics/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form MTDPS2 Mitochondrial DNA depletion syndrome 2 (myopathic type) TK2-related mitochondrial DNA depletion myopathy https://medlineplus.gov/genetics/condition/trnt1-deficiency RPEM Retinitis pigmentosa with erythrocytic microcytosis SIFD Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay TRNT1 enzyme deficiency TRNT1-related immunodeficiency TRNT1-related immunodeficiency+ https://medlineplus.gov/genetics/condition/tubb4a-related-leukodystrophy TUBB4A-associated hypomyelinating leukoencephalopathies TUBB4A-related hypomyelinating leukodystrophy https://medlineplus.gov/genetics/condition/tangier-disease A-alphalipoprotein neuropathy Alpha high density lipoprotein deficiency disease Analphalipoproteinemia Cholesterol thesaurismosis Familial high density lipoprotein deficiency disease Familial hypoalphalipoproteinemia HDL lipoprotein deficiency disease Lipoprotein deficiency disease, HDL, familial Tangier disease neuropathy Tangier hereditary neuropathy https://medlineplus.gov/genetics/condition/tarsal-carpal-coalition-syndrome NOG-related-symphalangism spectrum disorder TCC https://medlineplus.gov/genetics/condition/task-specific-focal-dystonia FTSD Focal hand dystonia Focal task-specific dystonia Occupational cramp Occupational dystonia Task-specific dystonia https://medlineplus.gov/genetics/condition/tay-sachs-disease B variant GM2 gangliosidosis GM2 gangliosidosis, type 1 HexA deficiency Hexosaminidase A deficiency Hexosaminidase alpha-subunit deficiency (variant B) Sphingolipidosis, Tay-Sachs TSD https://medlineplus.gov/genetics/condition/terminal-osseous-dysplasia DCD Digitocutaneous dysplasia TODPD Terminal osseous dysplasia and pigmentary defect syndrome Terminal osseous dysplasia and pigmentary defects Terminal osseous dysplasia with pigmentary defects Terminal osseous dysplasia-pigmentary defects syndrome https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome TETAMS Tetra-amelia Tetra-amelia, autosomal recessive https://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency BH4 deficiency Hyperphenylalaninemia caused by a defect in biopterin metabolism Hyperphenylalaninemia, non-phenylketonuric Non-phenylketonuric hyperphenylalaninemia https://medlineplus.gov/genetics/condition/tetrasomy-18p 18p isochromosome 18p tetrasomy https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia Dwarf, thanatophoric Thanatophoric dwarfism Thanatophoric short stature https://medlineplus.gov/genetics/condition/thiamine-responsive-megaloblastic-anemia-syndrome Rogers syndrome TRMA Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss https://medlineplus.gov/genetics/condition/thiopurine-s-methyltransferase-deficiency Poor metabolism of thiopurines TPMT deficiency Thiopurine methyltransferase deficiency https://medlineplus.gov/genetics/condition/thrombocytopenia-absent-radius-syndrome Chromosome 1q21.1 deletion syndrome, 200-KB Radial aplasia-amegakaryocytic thrombocytopenia Radial aplasia-thrombocytopenia syndrome TAR syndrome Thrombocytopenia absent radii https://medlineplus.gov/genetics/condition/thrombotic-thrombocytopenic-purpura Chronic relapsing thrombotic thrombocytopenic purpura Familial thrombotic thrombocytopenia purpura Moschkowitz disease Purpura, thrombotic thrombocytopenic TTP https://medlineplus.gov/genetics/condition/tibial-muscular-dystrophy TMD Tardive tibial muscular dystrophy Udd distal myopathy Udd myopathy Udd-Markesbery muscular dystrophy https://medlineplus.gov/genetics/condition/tietz-syndrome Albinism and complete nerve deafness Albinism-deafness of Tietz Hypopigmentation-deafness syndrome Hypopigmentation/deafness of Tietz Tietz albinism-deafness syndrome Tietz's syndrome https://medlineplus.gov/genetics/condition/timothy-syndrome LQT8 Long QT syndrome with syndactyly TS https://medlineplus.gov/genetics/condition/tourette-syndrome Chronic motor and vocal tic disorder GTS Gilles de la Tourette syndrome Gilles de la Tourette's syndrome TD TS Tourette disorder Tourette's disease https://medlineplus.gov/genetics/condition/townes-brocks-syndrome Anal-ear-renal-radial malformation syndrome Deafness-imperforate anus-hypoplastic thumbs syndrome Imperforate anus-hand and foot anomalies syndrome Renal-ear-anal-radial syndrome (REAR) Sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome Townes syndrome https://medlineplus.gov/genetics/condition/transcobalamin-deficiency TC II deficiency TC deficiency TCN2 deficiency Transcobalamin II deficiency https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis ATTR Portuguese polyneuritic amyloidosis Portuguese type familial amyloid neuropathy Swiss type amyloid polyneuropathy Type I familial amyloid polyneuropathy Type II familial amyloid polyneuropathy hATTR https://medlineplus.gov/genetics/condition/treacher-collins-syndrome Franceschetti-Zwahlen-Klein syndrome Mandibulofacial dysostosis (MFD1) Treacher Collins-Franceschetti syndrome Zygoauromandibular dysplasia https://medlineplus.gov/genetics/condition/trichohepatoenteric-syndrome Diarrhea, fatal infantile, with trichorrhexis nodosa Diarrhea, syndromic Intractable diarrhea with phenotypic anomalies Phenotypic diarrhea of infancy SD/THE Syndromic diarrhea THE syndrome THES Tricho-hepato-enteric syndrome https://medlineplus.gov/genetics/condition/trichorhinophalangeal-syndrome-type-i TRP syndrome TRPS I TRPS1 Trichorhinophalangeal dysplasia type I https://medlineplus.gov/genetics/condition/trichorhinophalangeal-syndrome-type-ii Chromosome 8q24.1 deletion syndrome Giedion-Langer syndrome LGS Langer-Giedion syndrome TRPS II TRPS2 Tricho-rhino-phalangeal syndrome type II Trichorhinophalangeal syndrome with exostosis https://medlineplus.gov/genetics/condition/trichothiodystrophy Amish brittle hair syndrome BIDS syndrome Brittle hair-intellectual impairment-decreased fertility-short stature syndrome IBIDS PIBIDS TTD https://medlineplus.gov/genetics/condition/trimethylaminuria Fish malodor syndrome Fish odor syndrome Stale fish syndrome TMAU TMAuria https://medlineplus.gov/genetics/condition/triosephosphate-isomerase-deficiency Deficiency of phosphotriose isomerase Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency TPI deficiency TPID Triose phosphate isomerase deficiency https://medlineplus.gov/genetics/condition/triple-a-syndrome AAA AAA syndrome Achalasia-addisonian syndrome Achalasia-addisonianism-alacrima syndrome Achalasia-alacrima syndrome Alacrima-achalasia-adrenal insufficiency neurologic disorder Allgrove syndrome https://medlineplus.gov/genetics/condition/trisomy-13 Bartholin-Patau syndrome Complete trisomy 13 syndrome Patau syndrome Patau's syndrome Trisomy 13 syndrome https://medlineplus.gov/genetics/condition/trisomy-18 Complete trisomy 18 syndrome Edwards syndrome Trisomy 18 syndrome Trisomy E syndrome https://medlineplus.gov/genetics/condition/trisomy-x 47,XXX 47,XXX syndrome Triple X syndrome Triplo X syndrome Trisomy X XXX syndrome https://medlineplus.gov/genetics/condition/troyer-syndrome Autosomal recessive spastic paraplegia type 20 SPG20 Spastic paraparesis, childhood-onset, with distal muscle wasting Spastic paraplegia 20, autosomal recessive Spastic paraplegia, autosomal recessive, Troyer type https://medlineplus.gov/genetics/condition/tuberous-sclerosis-complex Bourneville disease Bourneville phakomatosis Cerebral sclerosis Sclerosis tuberosa Tuberose sclerosis https://medlineplus.gov/genetics/condition/tubular-aggregate-myopathy Myopathy with tubular aggregates TAM https://medlineplus.gov/genetics/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome Autosomal dominant familial periodic fever FPF Familial Hibernian fever TNF receptor-associated periodic fever syndrome TRAPS https://medlineplus.gov/genetics/condition/turner-syndrome 45,X Monosomy X TS Turner's syndrome Ullrich-Turner syndrome https://medlineplus.gov/genetics/condition/type-1-diabetes Autoimmune diabetes Diabetes mellitus type 1 Diabetes mellitus, insulin-dependent Diabetes mellitus, type 1 IDDM Insulin-dependent diabetes mellitus JOD Juvenile diabetes Juvenile-onset diabetes Juvenile-onset diabetes mellitus T1D Type 1 diabetes mellitus https://medlineplus.gov/genetics/condition/type-2-diabetes AODM Adult-onset diabetes Adult-onset diabetes mellitus Diabetes mellitus, adult-onset Diabetes mellitus, non-insulin-dependent Diabetes mellitus, type 2 Diabetes mellitus, type II Maturity-onset diabetes Maturity-onset diabetes mellitus NIDDM Noninsulin-dependent diabetes mellitus T2D Type 2 diabetes mellitus https://medlineplus.gov/genetics/condition/type-a-insulin-resistance-syndrome Diabetes mellitus, insulin-resistant, with acanthosis nigricans Extreme insulin resistance with acanthosis nigricans, hirsutism and abnormal insulin receptors Insulin resistance - type A Insulin resistance syndrome, type A Insulin-resistance syndrome type A Insulin-resistant diabetes mellitus and acanthosis nigricans Type A insulin resistance https://medlineplus.gov/genetics/condition/tyrosine-hydroxylase-deficiency Autosomal recessive Segawa syndrome Autosomal recessive dopa-responsive dystonia Autosomal recessive infantile parkinsonism DYT5b TH deficiency TH-deficient DRD Tyrosine hydroxylase-deficient dopa-responsive dystonia https://medlineplus.gov/genetics/condition/tyrosinemia Hereditary tyrosinemia Hypertyrosinaemia Hypertyrosinemia Tyrosinaemia https://medlineplus.gov/genetics/condition/unc80-deficiency IHPRF2 Infantile hypotonia with psychomotor retardation and characteristic facies-2 https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome UVSS Ultraviolet sensitive syndrome https://medlineplus.gov/genetics/condition/ulcerative-colitis Colitis gravis Idiopathic proctocolitis Inflammatory bowel disease, ulcerative colitis type UC https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome Cheveux incoiffables Pili trianguli et canaliculi Spun glass hair UHS Unmanageable hair syndrome https://medlineplus.gov/genetics/condition/usher-syndrome Deafness-retinitis pigmentosa syndrome Graefe-Usher syndrome Hallgren syndrome Retinitis pigmentosa-deafness syndrome Usher's syndrome https://medlineplus.gov/genetics/condition/vacterl-association VATER association https://medlineplus.gov/genetics/condition/vexas-syndrome VEXAS vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia Autosomal recessive cerebellar ataxia with mental retardation Autosomal recessive cerebellar hypoplasia with cerebral gyral simplification CHMRQ1 Cerebellar disorder, nonprogressive, with mental retardation Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion Cerebellar hypoplasia, VLDLR-associated DES-VLDLR Dysequilibrium syndrome-VLDLR VLDLR-CH VLDLRCH https://medlineplus.gov/genetics/condition/van-der-woude-syndrome Cleft lip and/or palate with mucous cysts of lower lip Lip-pit syndrome VDWS VWS https://medlineplus.gov/genetics/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency ACADVL Acyl-CoA dehydrogenase very long chain deficiency VLCAD deficiency VLCAD-C VLCAD-H Very long-chain acyl coenzyme A dehydrogenase deficiency Very long-chain acyl-coenzyme A dehydrogenase deficiency https://medlineplus.gov/genetics/condition/vibratory-urticaria DDU Dermodistortive urticaria VBU Vibratory angioedema https://medlineplus.gov/genetics/condition/vici-syndrome Absent corpus callosum cataract immunodeficiency Corpus callosum agenesis-cataract-immunodeficiency syndrome Dionisi Vici Sabetta Gambarara syndrome Dionisi-Vici-Sabetta-Gambarara syndrome Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets VDDR https://medlineplus.gov/genetics/condition/vitelliform-macular-dystrophy Vitelliform dystrophy https://medlineplus.gov/genetics/condition/vitiligo https://medlineplus.gov/genetics/condition/vohwinkel-syndrome Congenital deafness with keratopachydermia and constrictions of fingers and toes KHM Keratoderma hereditarium mutilans Mutilating keratoderma PPK mutilans Vohwinkel Palmoplantar keratoderma mutilans Palmoplantar keratoderma mutilans Vohwinkel https://medlineplus.gov/genetics/condition/von-hippel-lindau-syndrome Angiomatosis retinae Cerebelloretinal angiomatosis, familial Hippel-Lindau disease VHL syndrome Von Hippel-Lindau disease https://medlineplus.gov/genetics/condition/von-willebrand-disease Angiohemophilia Vascular pseudohemophilia Von Willebrand disorder Von Willebrand's factor deficiency https://medlineplus.gov/genetics/condition/wagr-syndrome 11p deletion syndrome 11p partial monosomy syndrome WAGR complex WAGR contiguous gene syndrome WAGR spectrum disorder Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Wilms tumor-aniridia-genital anomalies-retardation syndrome Wilms tumor-aniridia-genitourinary anomalies-MR syndrome https://medlineplus.gov/genetics/condition/waardenburg-syndrome Waardenburg's syndrome https://medlineplus.gov/genetics/condition/wagner-syndrome Hyaloideoretinal degeneration of Wagner VCAN-related vitreoretinopathy Wagner disease Wagner vitreoretinal degeneration Wagner vitreoretinopathy https://medlineplus.gov/genetics/condition/waldenstrom-macroglobulinemia Macroglobulinemia of Waldenstrom WM Waldenstrom macroglobulinemia Waldenstrom's macroglobulinemia https://medlineplus.gov/genetics/condition/walker-warburg-syndrome COD-MD syndrome Cerebroocular dysplasia-muscular dystrophy syndrome Chemke syndrome HARD syndrome Hydrocephalus, agyria, and retinal dysplasia MDDGA Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A Walker-Warburg congenital muscular dystrophy https://medlineplus.gov/genetics/condition/warfarin-resistance Coumarin resistance Poor metabolism of coumarin https://medlineplus.gov/genetics/condition/warfarin-sensitivity Coumadin sensitivity Warfarin response https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome WABS https://medlineplus.gov/genetics/condition/weaver-syndrome Camptodactyly-overgrowth-unusual facies WSS Weaver-Smith syndrome https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome Brachydactyly-spherophakia syndrome Brachymorphy with spherophakia syndrome Congenital mesodermal dysmorphodystrophy Marchesani syndrome Marchesani-Weill Syndrome Spherophakia-brachymorphia syndrome WMS https://medlineplus.gov/genetics/condition/weissenbacher-zweymuller-syndrome Heterozygous OSMED Heterozygous otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia, autosomal dominant Pierre Robin syndrome with fetal chondrodysplasia WZS https://medlineplus.gov/genetics/condition/werner-syndrome Adult premature aging syndrome Adult progeria WS Werner's syndrome Werners syndrome https://medlineplus.gov/genetics/condition/weyers-acrofacial-dysostosis Acrodental dysostosis of Weyers Curry-Hall syndrome Weyers acrodental dysostosis https://medlineplus.gov/genetics/condition/white-sponge-nevus Cannon's disease Familial white folded mucosal dysplasia Hereditary leukokeratosis Hereditary mucosal leukokeratosis Hereditary oral keratosis Leukokeratosis of oral mucosa Leukokeratosis, hereditary mucosal Nevus of Cannon WSN White folded gingivostomatosis White gingivostomatitis White sponge naevus White sponge nevus of Cannon White sponge nevus of mucosa https://medlineplus.gov/genetics/condition/white-sutton-syndrome MRD37 Mental retardation, autosomal dominant 37 WHSUS https://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome Congenital pseudohydrocephalic progeroid syndrome Neonatal progeroid syndrome Neonatal pseudo-hydrocephalic progeroid syndrome Neonatal pseudohydrocephalic progeroid syndrome WRS https://medlineplus.gov/genetics/condition/williams-syndrome Beuren syndrome Elfin facies syndrome Elfin facies with hypercalcemia Hypercalcemia-supravalvar aortic stenosis WBS WS Williams-Beuren syndrome https://medlineplus.gov/genetics/condition/wilms-tumor Embryonal adenosarcoma Embryonal nephroma Kidney Wilms tumor Kidney, adenomyosarcoma, embryonal Kidney, carcinosarcoma, embryonal Kidney, embryoma Kidney, embryonal mixed tumor Nephroblastoma Nephroma Renal Wilms tumor Renal adenosarcoma Renal cancer, Wilms Tumor, Wilms Wilms' tumor https://medlineplus.gov/genetics/condition/wilson-disease Copper storage disease Hepatolenticular degeneration syndrome WD Wilson's disease https://medlineplus.gov/genetics/condition/winchester-syndrome WNCHRS Winchester disease https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome Eczema-thrombocytopenia-immunodeficiency syndrome IMD2 Immunodeficiency 2 Wiskott syndrome https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome 4p deletion syndrome 4p- syndrome Chromosome 4p deletion syndrome Chromosome 4p monosomy Del(4p) syndrome Monosomy 4p Partial monosomy 4p WHS https://medlineplus.gov/genetics/condition/wolff-parkinson-white-syndrome Ventricular pre-excitation with arrhythmia WPW Syndrome https://medlineplus.gov/genetics/condition/wolfram-syndrome DIDMOAD DIDMOAD syndrome DIDMOADUD Diabetes insipidus and mellitus with optic atrophy and deafness Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome Diabetes-hypogonadism-deafness-intellectual disability syndrome WSS https://medlineplus.gov/genetics/condition/x-linked-acrogigantism Chromosome Xq26 microduplication syndrome Chromosome Xq26.3 duplication syndrome X-LAG X-linked acrogigantism syndrome XLAG https://medlineplus.gov/genetics/condition/x-linked-adrenal-hypoplasia-congenita Adrenal hypoplasia congenita X-linked AHC https://medlineplus.gov/genetics/condition/x-linked-adrenoleukodystrophy X-ALD https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia Agammaglobulinemia Bruton's agammaglobulinemia Congenital agammaglobulinemia Hypogammaglobulinemia https://medlineplus.gov/genetics/condition/x-linked-cardiac-valvular-dysplasia CVD1 Congenital valvular heart disease Filamin-A-associated myxomatous mitral valve disease Filamin-A-related myxomatous mitral valve dystrophy X-linked myxomatous valvular dystrophy XMVD https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1 Arylsulfatase E deficiency CDPX1 Chondrodysplasia punctata 1, X-linked X-linked recessive chondrodysplasia punctata 1 https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-2 CDPX2 Chondrodysplasia punctata 2, X-linked Conradi-Hünermann syndrome Conradi-Hünermann-Happle syndrome Happle syndrome X-linked dominant chondrodysplasia punctata https://medlineplus.gov/genetics/condition/x-linked-congenital-stationary-night-blindness X-linked CSNB XLCSNB https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency Creatine transporter defect Creatine transporter deficiency SLC6A8 deficiency SLC6A8-related creatine transporter deficiency X-linked creatine deficiency syndrome https://medlineplus.gov/genetics/condition/x-linked-dilated-cardiomyopathy CMD3B DMD-associated dilated cardiomyopathy DMD-related dilated cardiomyopathy Dilated cardiomyopathy 3B XLCM XLDC https://medlineplus.gov/genetics/condition/x-linked-dystonia-parkinsonism DYT3 Dystonia 3, torsion, X-linked Dystonia musculorum deformans Dystonia-parkinsonism, X-linked Lubag Torsion dystonia-parkinsonism, Filipino type X-linked dystonia-parkinsonism syndrome X-linked torsion dystonia-parkinsonism syndrome XDP https://medlineplus.gov/genetics/condition/x-linked-hyper-igm-syndrome HIGM1 Hyper-IgM syndrome 1 Immunodeficiency with Hyper-IgM, type 1 https://medlineplus.gov/genetics/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia XMEN https://medlineplus.gov/genetics/condition/x-linked-infantile-nystagmus Congenital motor nystagmus FRMD7-related infantile nystagmus Idiopathic infantile nystagmus NYS1 X-linked congenital nystagmus X-linked idiopathic infantile nystagmus https://medlineplus.gov/genetics/condition/x-linked-infantile-spinal-muscular-atrophy AMCX1 Arthrogryposis multiplex congenita, distal, X-linked Arthrogryposis, X-lined, type I Distal X-linked AMC Infantile X-linked SMA SMAX2 Spinal muscular atrophy, X-linked 2 Spinal muscular atrophy, X-linked lethal infantile Spinal muscular atrophy, infantile X-linked X-linked arthrogryposis multiplex congenita X-linked arthrogryposis type I X-linked lethal infantile SMA XL-SMA XLSMA https://medlineplus.gov/genetics/condition/x-linked-intellectual-disability-siderius-type MRXSSD Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome Syndromic X-linked mental retardation, Siderius type X-linked mental retardation Hamel type X-linked mental retardation Siderius type https://medlineplus.gov/genetics/condition/x-linked-juvenile-retinoschisis Congenital X-linked retinoschisis Degenerative retinoschisis Juvenile retinoschisis X-linked retinoschisis XJR https://medlineplus.gov/genetics/condition/x-linked-lissencephaly-with-abnormal-genitalia LISX2 X-linked lissencephaly 2 X-linked lissencephaly with ambiguous genitalia XLAG XLISG https://medlineplus.gov/genetics/condition/x-linked-lymphoproliferative-disease Duncan disease Epstein-Barr virus-induced lymphoproliferative disease in males Familial fatal Epstein-Barr infection Purtilo syndrome Severe susceptibility to EBV infection Severe susceptibility to infectious mononucleosis X-linked lymphoproliferative syndrome XLP https://medlineplus.gov/genetics/condition/x-linked-myotubular-myopathy CNM MTMX X-linked centronuclear myopathy XLMTM XMTM https://medlineplus.gov/genetics/condition/x-linked-severe-combined-immunodeficiency IL2RG SCID, T- B+ NK- SCIDX1 X-SCID X-linked SCID XSCID https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia ANH1 Anemia, hereditary sideroblastic Anemia, sex-linked hypochromic sideroblastic Congenital sideroblastic anaemia Erythroid 5-aminolevulinate synthase deficiency Hereditary iron-loading anemia X chromosome-linked sideroblastic anemia X-linked pyridoxine-responsive sideroblastic anemia XLSA https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia-and-ataxia XLSA/A https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda Late onset spondyloepiphyseal dysplasia SED tarda X-linked SED X-linked SEDT https://medlineplus.gov/genetics/condition/x-linked-thrombocytopenia Thrombocytopenia 1 XLT https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum DeSanctis-Cacchione syndrome XP https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Autosomal dominant intellectual disability 25 XGS https://medlineplus.gov/genetics/condition/y-chromosome-infertility Spermatogenic failure, Y-linked Y chromosome-related azoospermia https://medlineplus.gov/genetics/condition/yao-syndrome NAID NOD2-associated AID NOD2-associated autoinflammatory disease YAOS https://medlineplus.gov/genetics/condition/yuan-harel-lupski-syndrome PMP22-RAI1 contiguous gene duplication syndrome YUHAL syndrome https://medlineplus.gov/genetics/condition/zap70-related-severe-combined-immunodeficiency Selective T-cell defect ZAP70-related SCID Zeta-associated protein 70 deficiency https://medlineplus.gov/genetics/condition/zellweger-spectrum-disorder Cerebrohepatorenal syndrome PBD, ZSS PBD-ZSD Peroxisome biogenesis disorders, Zellweger syndrome spectrum ZSD Zellweger spectrum Zellweger syndrome spectrum https://medlineplus.gov/genetics/gene/ https://medlineplus.gov/genetics/gene/aaas https://medlineplus.gov/genetics/gene/aass https://medlineplus.gov/genetics/gene/abat 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