- AAA syndrome
- AAE
- ABCB4 gene mutation-associated cholelithiasis
- ABCD syndrome
- ABSD
- ACCV
- ACFS
- ACPS 2
- ACPS 4
- ACPS III
- ACPS with leg hypoplasia
- ACRP syndrome
- ACS
- ACS 1
- ACS 3
- ACS 5
- ACTH-independent macronodular adrenal hyperplasia
- ACTH resistance
- ACY1D
- ACZ-responsive congenital myotonia
- ACZ-responsive myotonia
- AD-CNM
- AD-HIES
- ADANE
- ADCA1
- ADCA3
- ADCA4
- ADCAI
- ADCAIII
- ADCAIV
- ADCL
- ADCME
- ADEM
- ADLTE
- ADNFLE
- ADPEAF
- ADP platelet receptor P2Y12 deficiency
- ADSA
- ADSD
- ADSL deficiency
- ADULT syndrome
- ADVIRC
- AEC syndrome
- AEI
- AFAP
- AHC
- AHDS
- AHO - PHP Ia
- AHO - PPHP
- AHUS
- AICA-ribosiduria
- AIDP
- AIDS wasting syndrome
- AID deficiency
- AIMAH
- AIP
- AIP type 1
- AIP type 2
- AIS
- ALAD porphyria
- ALCL
- ALD
- ALL
- ALPS
- ALPS type 4
- ALPS type IV
- ALPS with recurrent infections
- ALS
- ALSG
- ALX4-related FNDAG
- AMACR deficiency
- AMAN
- AML
- AML-M5
- AMME complex
- AMME syndrome
- AMOA
- AMP deaminase deficiency
- AMSAN
- ANEC
- ANE syndrome
- ANOTHER syndrome
- AOA1
- AOA2
- AOI
- AOS
- AP4 deficiency syndrome
- APC-related AFAP
- APC-related attenuated FAP
- APC-related attenuated familial adenomatous polyposis
- APC-related attenuated familial polyposis coli
- APECED syndrome
- APS
- APS2
- APS3
- APS4
- AR-CMT1
- AR-CMT2
- AR-CMT2B1
- AR-CMT2B2
- AR-CMT2C
- AR-CNM
- ARCL2
- ARCMT2K
- ARC syndrome
- AREDYLD syndrome
- ARSACS
- ARSB deficiency
- ARVC
- ARVD
- ASAN
- ASB deficiency
- ASD
- ASD, coronary sinus type
- ASD, ostium primum type
- ASD, ostium secundum type
- ASD, sinus venosus type
- ASPED
- ASSA
- ASS deficiency
- AT/RT
- ATIC deficiency
- ATLD
- ATM/TM
- ATMDS
- ATR-16 syndrome
- ATR-X syndrome
- ATRUS syndrome
- ATS
- ATS-MR
- ATTR cardiomyopathy
- AT V1
- AVED
- Aagenaes syndrome
- Aarskog-Ose-Pande syndrome
- Aarskog-Scott syndrome
- Aarskog-like syndrome
- Aarskog syndrome
- Aase-Smith II syndrome
- Aase-Smith I syndrome
- Aase-Smith syndrome
- Aase syndrome
- Aberfeld syndrome
- Abetalipoproteinemia
- Abnormal origin of the pulmonary artery
- Abnormal origin or aberrant course of coronary artery
- Abruzzo-Erickson syndrome
- Absence deformity of leg - cataract
- Absence of brachiocephalic vein
- Absence of dermatoglyphics - congenital milia
- Absence of fingerprints - congenital milia
- Absence of innominate vein
- Absence of lateral incisors
- Absence of pulmonary valve - Fallot's tetralogy - absence of ductus arteriosus
- Absence of the SVC
- Absence of the pulmonary artery
- Absence of the superior caval vein
- Absence of the superior vena cava
- Absence of tibia
- Absence of ulna and fibula
- Absence of vagina
- Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit
- Absent tibia - polydactyly
- Absent tibia - polydactyly - arachnoid cyst
- Acalvaria
- Acanthamoeba keratitis
- Acanthokeratolytic verrucous nevus
- Acanthosis nigricans
- Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
- Acatalasemia
- Accelerated skeletal maturation - peculiar facies - failure to thrive
- Accessory breasts
- Accessory mitral valve tissue
- Accessory pancreas
- Accessory tricuspid valve tissue
- Aceruloplasminemia
- Acetazolamide-responsive congenital myotonia
- Acetazolamide-responsive myotonia
- Achalasia-alacrimia syndrome
- Achalasia - addisonianism - alacrima syndrome
- Achalasia - microcephaly
- Acheiropodia
- Acheiropody
- Achondrogenesis
- Achondrogenesis, Houston-Harris type
- Achondrogenesis, Langer-Saldino type
- Achondrogenesis, Parenti-Fraccaro type
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Achondrogenesis type 2
- Achondroplasia
- Achondroplasia - severe combined immunodeficiency
- Achondroplasia and Swiss-type agammaglobulinemia
- Achromatopsia
- Acid beta-glucosidase deficiency
- Acid maltase deficiency
- Acid phosphatase deficiency
- Acitretin embryofetopathy
- Ackerman dermatitis syndrome
- Ackerman syndrome
- Aconitase deficiency
- Acoustic neurilemoma
- Acoustic neurinoma
- Acoustic neuroma
- Acquired C1 inhibitor deficiency
- Acquired Gronblad-Strandberg-Touraine syndrome
- Acquired HbH disease
- Acquired PXE
- Acquired Von Willebrand disease
- Acquired Von Willebrand syndrome
- Acquired angioedema
- Acquired angioedema type 1
- Acquired angioedema type 2
- Acquired angioneurotic edema
- Acquired angioneurotic edema type 1
- Acquired angioneurotic edema type 2
- Acquired bradykinine-induced angioedema
- Acquired chronic adrenal insufficiency
- Acquired ciliary dyskinesia
- Acquired cutis laxa
- Acquired epidermolysis bullosa
- Acquired generalized lipodystrophy
- Acquired hemoglobin H disease
- Acquired hemophilia
- Acquired hypertrichosis lanuginosa
- Acquired hypocortisolism
- Acquired hypoprothrombinemia
- Acquired ichthyosis
- Acquired kinky hair syndrome
- Acquired lipoatrophic diabetes
- Acquired myasthenia
- Acquired neuromyotonia
- Acquired non histamine-induced angioedema
- Acquired primary erythocytosis
- Acquired pseudoxanthoma elasticum
- Acquired rippling muscle disease
- Acquired secondary erythrocytosis
- Acquired secondary polycythemia
- Acquired thrombotic thrombocytopenic purpura due to anti-ADAMTS 13 antibodies
- Acral SHCB
- Acral dysostosis with facial and genital abnormalities
- Acral persistent papular mucinosis
- Acral self-healing collodion baby
- Acrania
- Acro-Dermato-Ungual-Lacrimal-Tooth syndrome
- Acro-cardio-facial syndrome
- Acro-cephalo synostosis
- Acro-dento-osteo-dysplasia
- Acro-fronto-facio-nasal dysostosis
- Acro-oto-ocular syndrome
- Acro-pectoral syndrome
- Acro-pectoro-renal field defect
- Acro-renal-mandibular syndrome
- Acro-renal-ocular syndrome
- Acrocallosal syndrome
- Acrocapitofemoral dysplasia
- Acrocephalopolydactylous dysplasia
- Acrocephalopolydactyly
- Acrocephalopolysyndactyly type 2
- Acrocephalopolysyndactyly type 3
- Acrocephalopolysyndactyly type 4
- Acrocephalosyndactyly type 1
- Acrocephalosyndactyly type 3
- Acrocephalosyndactyly type 5
- Acrocraniofacial dysostosis
- Acrodermatitis continua suppurativa of Hallopeau
- Acrodermatitis enteropathica, zinc deficiency type
- Acrodysostosis
- Acrodysostosis with multiple hormone resistance
- Acrodysplasia
- Acrodysplasia scoliosis
- Acrofacial dysostosis, Catania type
- Acrofacial dysostosis, Genee-Wiedmann type
- Acrofacial dysostosis, Kennedy-Teebi type
- Acrofacial dysostosis, Nager type
- Acrofacial dysostosis, Palagonia type
- Acrofacial dysostosis, Rodriguez type
- Acrofacial dysostosis, Weyers type
- Acrofrontofacionasal dysostosis type 2
- Acrofrontofacionasal syndrome type 2
- Acrogeria
- Acrogeria, Gottron type
- Acrokeratoelastoidosis of Costa
- Acrokeratosis of Bazex
- Acrokeratosis paraneoplastica
- Acrokeratosis verruciformis of Hopf
- Acromegaloid facial appearance syndrome
- Acromegaloid facies - hypertrichosis
- Acromegaly
- Acromegaly - cutis verticis gyrata - corneal leukoma
- Acromelanosis
- Acromelic frontonasal dysplasia
- Acromesomelic dwarfism
- Acromesomelic dysplasia, Brahimi-Bacha type
- Acromesomelic dysplasia, Grebe type
- Acromesomelic dysplasia, Hunter-Thomson type
- Acromesomelic dysplasia, Maroteaux type
- Acrometageria
- Acromicric dysplasia
- Acroosteolysis dominant type
- Acropectorovertebral dysplasia
- Acropigmentation of Dohi
- Acrorenal defect - ectodermal dysplasia - diabetes
- Acrorenal syndrome
- Actin myopathy
- Actinic LP
- Actinic lichen planus
- Action myoclonus - renal failure syndrome
- Activation-induced cytidine deaminase deficiency
- Acute ackee fruit intoxication
- Acute adrenal insufficiency
- Acute and disseminated Langerhans cell histiocytosis
- Acute bilateral depigmentation of the iris
- Acute biphenotypic leukemia
- Acute disseminated encephalitis
- Acute disseminated encephalomyelitis
- Acute erythroid leukemia
- Acute fatty liver of pregnancy
- Acute febrile neutrophilic dermatosis
- Acute graft versus host disease
- Acute hepatic failure
- Acute hepatic porphyria
- Acute idiopathic demyelinating polyneuropathy
- Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect
- Acute inflammatory demyelinating polyradiculoneuropathy
- Acute inflammatory polyneuropathy
- Acute intermittent porphyria
- Acute interstitial pneumonia
- Acute interstitial pneumonitis
- Acute intoxication blighia sapida
- Acute leukemia of ambiguous lineage
- Acute leukemia of indeterminate lineage
- Acute liver failure
- Acute lung injury
- Acute lymphoblastic leukemia
- Acute lymphoblastic leukemia/lymphoma
- Acute lymphocytic leukemia
- Acute megacaryoblastic leukemia
- Acute monoblastic leukemia
- Acute monocytic leukemia
- Acute motor-sensory axonal GBS
- Acute motor-sensory axonal Guillain-Barré syndrome
- Acute motor-sensory axonal neuropathy
- Acute motor axonal neuropathy
- Acute multiple sclerosis, Marburg type
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