Genetic birth defects images: What's new
-
Medical Images
Developmental and genetic diseases - A
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
R
S
T
U
V
W
X
Y
Z
Search with keyword(s)
And
Or
Wildcard = *
AA ( Sveinsson chorioretinal atrophy [1] )
AAA ( Triple-A syndrome [8] )
AARRS ( Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome [1] )
AAS ( Faciogenital dysplasia [5] )
AAT1 ( Aortic aneurysm, familial thoracic 1 [1] )
AAT4 ( Aortic aneurysm, familial thoracic 4 [1] )
ABL ( Abetalipoproteinemia [1] )
ABS ( Amniotic band syndrome [13] )
ABS ( Antley-Bixler syndrome [5] )
ACC ( Aplasia cutis congenita [22] )
ACD ( Corneal dystrophy, Avellino type [10] )
ACF ( Hypoplasia of the depressor anguli oris muscle [5] )
ACFD ( Acrocapitofemoral dysplasia [6] )
ACG1B ( Achondrogenesis, type IB [1] )
ACG2 ( Achondrogenesis, type II [11] )
ACH ( Achondroplasia [16] )
ACHM3 ( Achromatopsia 3 [2] )
ACHP ( Acheiropody [1] )
ACLS ( Acrocallosal syndrome [4] )
ACN ( Neurofibromatosis, type II [7] )
ACPS II ( Carpenter syndrome [1] )
ACRP syndrome ( Acropectoral syndrome [2] )
ACRPS ( Acropectoral syndrome [2] )
ACRPV ( Acropectorovertebral dysplasia [1] )
ACS III ( Saethre-Chotzen syndrome [2] )
ACS V ( Pfeiffer syndrome [14] )
ACS1 ( Apert syndrome [30] )
ACS3 ( Saethre-Chotzen syndrome [2] )
ACS5 ( Pfeiffer syndrome [14] )
ACTH-dependent hyperaldosteronism syndrome ( Glucocorticoid-remediable aldosteronism [1] )
ACTH-independent Cushing syndrome ( ACTH-independent macronodular adrenal hyperplasia [21] )
ACTH-independent macronodular adrenal hyperplasia [21]
ACTH-independent macronodular adrenocortical hyperplasia ( ACTH-independent macronodular adrenal hyperplasia [21] )
ACTH-resistant adrenal insufficiency, achalasia and alacrima ( Triple-A syndrome [8] )
ACV ( Spinocerebellar ataxia 29 [2] )
ADA-SCID ( Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [1] )
ADAM complex ( Amniotic band syndrome [13] )
ADCA, type II ( Spinocerebellar ataxia 7 [4] )
ADLD ( Leukodystrophy, adult-onset, autosomal dominant [8] )
ADMD ( Stargardt disease 3 [6] )
ADT1P ( Porencephaly, familial [1] )
ADULT syndrome [5]
ADVIRC ( Vitreoretinochoroidopathy [1] )
AEC syndrome ( Hay-Wells syndrome [9] )
AEG syndrome ( Microphthalmia, syndromic 3 [1] )
AEI ( Ichthyosis, cyclic, with epidermolytic hyperkeratosis [7] )
AEM ( Episodic ataxia, type 1 [1] )
AEMK ( Episodic ataxia, type 1 [1] )
AGMX1 ( Agammaglobulinemia, X-linked [3] )
AGS ( Alagille syndrome [18] )
AGS ( Aicardi-Goutieres syndrome 1 [3] )
AGS1 ( Aicardi-Goutieres syndrome 1 [3] )
AGS5 ( Aicardi-Goutieres syndrome 5 [1] )
AGU ( Aspartylglucosaminuria [8] )
AH ( Hypotrichosis, autosomal recessive [1] )
AHC ( Adrenal hypoplasia, congenital [2] )
AHCH ( Adrenal hypoplasia, congenital [2] )
AHD ( Alagille syndrome [18] )
AHDS ( Allan-Herndon-Dudley syndrome [3] )
AHO ( Albright hereditary osteodystrophy [14] )
AHO3 ( Brachydactyly-mental retardation syndrome [1] )
AHX ( Adrenal hypoplasia, congenital [2] )
AI1B ( Amelogenesis imperfecta, type IB [3] )
AI1G ( Amelogenesis imperfecta, hypoplastic type, IG [2] )
AIC ( Aicardi syndrome [21] )
AIH1 ( Amelogenesis imperfecta 1, hypoplastic type [1] )
AIH2 ( Amelogenesis imperfecta 2, hypoplastic local, autosomal dominant [5] )
AIH2 ( Amelogenesis imperfecta, type IB [3] )
AIMAH ( ACTH-independent macronodular adrenal hyperplasia [21] )
AIP ( Porphyria, acute intermittent [1] )
AIS ( Androgen insensitivity syndrome [16] )
AKU ( Alkaptonuria [21] )
AKV ( Acrokeratosis verruciformis [19] )
ALCAPA ( Bland-White-Garland syndrome [10] )
ALD ( Adrenoleukodystrophy [67] )
ALMS ( Alstrom syndrome [8] )
ALPS ( Autoimmune lymphoproliferative syndrome [21] )
ALPS1A ( Autoimmune lymphoproliferative syndrome [21] )
ALPS1B ( Autoimmune lymphoproliferative syndrome [21] )
ALS4 ( Amyotrophic lateral sclerosis 4, juvenile [4] )
ALSS ( Alstrom syndrome [8] )
ALUNC ( Alopecia universalis congenita [1] )
AMCD1 ( Arthrogryposis, distal, type 1 [1] )
AMCN ( Arthrogryposis multiplex congenita, neurogenic type [1] )
AMDM ( Acromesomelic dysplasia, Maroteaux type [9] )
AMME complex [1]
AN2 ( Aniridia, type II [12] )
ANDD ( Anderson disease [4] )
ANH1 ( Anemia, sideroblastic, X-linked [2] )
ANIC ( Anosmia, congenital [3] )
AOA ( Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [4] )
AOA1 ( Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [4] )
AOA2 ( Spinocerebellar ataxia, autosomal recessive 1 [2] )
AOFMD ( Vitelliform macular dystrophy, adult-onset [6] )
AOM ( Stickler syndrome, type I [10] )
AOS ( Adams-Oliver syndrome [4] )
APC ( Adenomatous polyposis of the colon [11] )
APECED ( Autoimmune polyendocrinopathy syndrome, type I [4] )
APKD ( Polycystic kidney disease [16] )
APKD2 ( Polycystic kidney disease 2 [2] )
APL ( Atrichia with papular lesions [7] )
APS I ( Autoimmune polyendocrinopathy syndrome, type I [4] )
APS1 ( Autoimmune polyendocrinopathy syndrome, type I [4] )
APSB ( Jejunal atresia [11] )
APSM ( Epstein syndrome [2] )
APSS ( Peeling skin syndrome, acral type [1] )
APVR ( Total anomalous pulmonary venous return [19] )
ARC syndrome ( Arthrogryposis, renal dysfunction, and cholestasis [5] )
ARCC1 ( Cataract, age-related cortical [1] )
ARCL1 ( Cutis laxa, autosomal recessive, type I [12] )
ARCL2 ( Cutis laxa, autosomal recessive, type II [3] )
ARIH ( Ichthyosis with hypotrichosis, autosomal recessive [2] )
ARMD1 ( Macular degeneration, age-related, 1 [1] )
ARMD2 ( Macular degeneration, age-related, 2 [1] )
ARPKD ( Polycystic kidney disease, autosomal recessive [61] )
ARSA deficiency ( Metachromatic leukodystrophy [22] )
ARSACS ( Spastic ataxia of the Charlevoix-Saguenay type [8] )
ARSAL ( Ataxia, spastic, 3, autosomal recessive [1] )
ARSB deficiency ( Mucopolysaccharidosis, type VI [4] )
AS ( Angelman syndrome [12] )
ASAT ( Anemia, sideroblastic, and spinocerebellar ataxia [2] )
ASB ( Anemia, sideroblastic, X-linked [2] )
ASH ( Cardiomyopathy, familial hypertrophic [3] )
ASL deficiency ( Argininosuccinic aciduria [1] )
AT ( Ataxia-telangiectasia [7] )
ATD ( Jeune syndrome [6] )
ATK ( Agammaglobulinemia, X-linked [3] )
ATMDS ( Alpha thalassemia myelodysplasia syndrome [4] )
ATN ( Oculocutaneous albinism, type I [10] )
ATR, nondeletion type ( Alpha thalassemia/mental retardation syndrome, nondeletion type, X linked [3] )
ATR-X syndrome ( Alpha thalassemia/mental retardation syndrome, nondeletion type, X linked [3] )
ATRX ( Alpha thalassemia/mental retardation syndrome, nondeletion type, X linked [3] )
ATS ( Alport syndrome, X-linked [2] )
ATS-DL ( Alport syndrome and diffuse leiomyomatosis [3] )
ATS-MR ( AMME complex [1] )
AU ( Alopecia areata [41] )
AVMD ( Vitelliform macular dystrophy, adult-onset [6] )
AWS ( Alagille syndrome [18] )
Aarskog syndrome ( Faciogenital dysplasia [5] )
Aarskog-Scott syndrome ( Faciogenital dysplasia [5] )
Aase syndrome ( Diamond-Blackfan anemia [4] )
Aase-Smith syndrome II ( Diamond-Blackfan anemia [4] )
Abdominal wall defects ( Gastroschisis [4] )
Abernethy malformation ( Extrahepatic portosystemic shunt, congenital [11] )
Abetalipoproteinemia [1]
Absence defect of limbs, scalp, and skull ( Adams-Oliver syndrome [4] )
Absence of abdominal muscles with urinary tract abnormality and cryptorchidism ( Prune belly syndrome [17] )
Absence of fingers ( Ectrodactyly [7] )
Absent / abnormally small tongue ( Aglossia / microglossia [5] )
Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation ( Genitopatellar syndrome [5] )
Absent thumb ( Thumb aplasia [4] )
Acalvaria [2]
Acanthocytosis ( Abetalipoproteinemia [1] )
Acanthocytosis with neurologic disorder ( Choreoacanthocytosis [2] )
Acanthosis nigricans [48]
Acanthosis nigricans - Histology [3]
Acardiac twin ( Twin reversed arterial perfusion syndrome [2] )
Acardius acephalus ( Conjoined twins, chorangiopagus parasiticus [2] )
Accessory breast tissue ( Breast tissue, accessory [19] )
Accessory cardiac bronchus [18]
Accessory nipples ( Nipples, supernumerary [14] )
Accessory spleen [38]
Accessory tragus [5]
Acephaly [3]
Aceruloplasminemia [11]
Acetabular dysplasia ( Hip dislocation, congenital [18] )
Achalasia-addisonianism-alacrima syndrome ( Triple-A syndrome [8] )
Achalasia-alacrima syndrome ( Triple-A syndrome [8] )
Acheiropodia ( Acheiropody [1] )
Acheiropody [1]
Achondrogenesis [1]
Achondrogenesis, Fraccaro type ( Achondrogenesis, type IB [1] )
Achondrogenesis, Langer-Saldino type ( Achondrogenesis, type II [11] )
Achondrogenesis, type IB [1]
Achondrogenesis, type II [11]
Achondrogenesis-hypochondrogenesis, type II ( Achondrogenesis, type II [11] )
Achondroplasia [16]
Achromatopsia [4]
Achromatopsia 3 [2]
Achromatopsia with myopia ( Achromatopsia 3 [2] )
Achromatopsia, incomplete, X-linked ( Cone-rod dystrophy, X-linked, 1 [6] )
Acid beta-glucosidase deficiency ( Gaucher disease, type I [21] )
Acid ceramidase deficiency ( Farber lipogranulomatosis [8] )
Acid maltase deficiency ( Glycogen storage disease II [12] )
Acne inversa, familial [3]
Acoustic neurinoma, bilateral ( Neurofibromatosis, type II [7] )
Acoustic schwannomas, bilateral ( Neurofibromatosis, type II [7] )
Acral dysostosis with facial and genital abnormalities ( Robinow syndrome [4] )
Acral peeling skin syndrome ( Peeling skin syndrome, acral type [1] )
Acro-dermato-ungual-lacrimal-tooth syndrome ( ADULT syndrome [5] )
Acrocallosal syndrome [4]
Acrocallosal syndrome, Schinzel type ( Acrocallosal syndrome [4] )
Acrocapitofemoral dysplasia [6]
Acrocephalopolysyndactyly type II ( Carpenter syndrome [1] )
Acrocephalosyndactyly, Robinow-Sorauf type ( Robinow-Sorauf syndrome [1] )
Acrocephalosyndactyly, type I ( Apert syndrome [30] )
Acrocephalosyndactyly, type III ( Saethre-Chotzen syndrome [2] )
Acrocephalosyndactyly, type V ( Pfeiffer syndrome [14] )
Acrocephaly, skull asymmetry, and mild syndactyly ( Saethre-Chotzen syndrome [2] )
Acrodental dysostosis of Weyers ( Weyers acrofacial dysostosis [1] )
Acrodermatitis enteropathica [13]
Acrodermatitis enteropathica - Histology [3]
Acrodermatitis enteropathica, zinc deficiency type ( Acrodermatitis enteropathica [13] )
Acrodysostosis [4]
Acrofacial dysostosis [1]
Acrogeria, Gottron type [5]
Acrokeratoderma, hereditary papulotranslucent [3]
Acrokeratoelastoidosis [7]
Acrokeratoelastoidosis of Costa ( Acrokeratoelastoidosis [7] )
Acrokeratosis verruciformis [19]
Acromegaly [20]
Acromegaly - Imaging [26]
Acromesomelic dysplasia, Maroteaux type [9]
Acrometageria ( Acrogeria, Gottron type [5] )
Acroosteolysis with osteoporosis and changes in skull and mandible [11]
Acroosteolysis, Giaccai type ( Neuropathy, hereditary sensory and autonomic, type II [7] )
Acroosteolysis, neurogenic ( Neuropathy, hereditary sensory and autonomic, type II [7] )
Acropectoral syndrome [2]
Acropectorovertebral dysplasia [1]
Acrorenal syndrome [3]
Acrorenal-mandibular syndrome [3]
Acrorenal-uterine-mandibular syndrome ( Acrorenal-mandibular syndrome [3] )
Acrorenoocular syndrome ( Duane radial ray syndrome [11] )
Adams-Oliver syndrome [4]
Addison disease [6]
Addison disease and cerebral sclerosis ( Adrenoleukodystrophy [67] )
Addison disease, X-linked ( Adrenal hypoplasia, congenital [2] )
Addisonian-achalasia syndrome ( Triple-A syndrome [8] )
Adenomatous intestinal polyposis ( Adenomatous polyposis of the colon [11] )
Adenomatous polyposis of the colon [11]
Adenomatous polyposis of the colon - Histology [3]
Adenomatous polyposis of the colon - Imaging [8]
Adenylosuccinase deficiency [2]
Adenylosuccinate lyase deficiency ( Adenylosuccinase deficiency [2] )
Adrenal aplasia ( Addison disease [6] )
Adrenal hyperplasia I ( Lipoid congenital adrenal hyperplasia [3] )
Adrenal hyperplasia III ( Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [13] )
Adrenal hyperplasia IV ( Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency [1] )
Adrenal hyperplasia V ( Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency [1] )
Adrenal hyperplasia, congenital [9]
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency [1]
Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency [1]
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [13]
Adrenal hyperplasia, congenital, due to apparent combined p450c17 and p450c21 deficiency ( POR deficiency [2] )
Adrenal hyperplasia, congenital, due to defects in several steroid-biosynthetic enzymes ( POR deficiency [2] )
Adrenal hypoplasia ( Addison disease [6] )
Adrenal hypoplasia, congenital [2]
Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism ( Adrenal hypoplasia, congenital [2] )
Adrenal insufficiency, primary ( Addison disease [6] )
Adrenocortical insufficiency, primary ( Addison disease [6] )
Adrenocortical nodular dysplasia, primary ( Carney complex, type 1 [16] )
Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia ( ACTH-independent macronodular adrenal hyperplasia [21] )
Adrenoleukodystrophy [67]
Adrenoleukodystrophy, autosomal neonatal form [2]
Adrenoleukodystrophy, neonatal ( Adrenoleukodystrophy, autosomal neonatal form [2] )
Adrenomyeloneuropathy ( Adrenoleukodystrophy [67] )
Adult neuronal ceroid lipofuscinosis ( Ceroid lipofuscinosis, neuronal, 4, autosomal recessive [1] )
African lymphoma ( Burkitt lymphoma [19] )
Agammaglobulinemia tyrosine kinase ( Agammaglobulinemia, X-linked [3] )
Agammaglobulinemia, X-linked [3]
Agammaglobulinemia, X-linked, type I ( Agammaglobulinemia, X-linked [3] )
Age-related cortical cataract 1 ( Cataract, age-related cortical [1] )
Agenesis of corpus callosum [18]
Agenesis of corpus callosum - Prenatal diagnosis [9]
Agenesis of corpus callosum with chorioretinal abnormality ( Aicardi syndrome [21] )
Agenesis of the gallbladder ( Gallbladder agenesis [8] )
Agenesis of the seminal vesicle ( Seminal vesicle agenesis [2] )
Aglossia / microglossia [5]
Aglossia-adactylia [6]
Aicardi syndrome [21]
Aicardi-Goutieres syndrome 1 [3]
Aicardi-Goutieres syndrome 5 [1]
Aicardi-Goutieres syndrome, autosomal dominant ( Aicardi-Goutieres syndrome 5 [1] )
Al-Aqeel Sewairi syndrome ( Torg-Winchester syndrome [2] )
Al-Awadi/Raas-Rothschild syndrome ( Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome [1] )
Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome [1]
Alacrima-achalasia-addisonianism ( Triple-A syndrome [8] )
Alacrima-achalasia-adrenal insufficiency neurologic disorder ( Triple-A syndrome [8] )
Alagille syndrome [18]
Alagille-Watson syndrome ( Alagille syndrome [18] )
Alanine-glyoxylate aminotransferase deficiency ( Hyperoxaluria, primary, type I [30] )
Albers-Schonberg disease ( Osteopetrosis [16] )
Albers-Schonberg disease, autosomal dominant ( Osteopetrosis, autosomal dominant, type II [7] )
Albers-Schonberg disease, autosomal recessive ( Osteopetrosis, autosomal recessive [16] )
Albinism [4]
Albinism I ( Oculocutaneous albinism, type I [10] )
Albinism II ( Oculocutaneous albinism, type II [2] )
Albinism III ( Oculocutaneous albinism, type III [1] )
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ( Hermansky-Pudlak syndrome [23] )
Albinism, ocular, type I [7]
Albinism, oculocutaneous, type I, temperature-sensitive ( Oculocutaneous albinism, type IB [1] )
Albinism, oculocutaneous, type IA ( Oculocutaneous albinism, type I [10] )
Albinism, oculocutaneous, type II ( Oculocutaneous albinism, type II [2] )
Albinism, oculocutaneous, type III ( Oculocutaneous albinism, type III [1] )
Albinism, oculocutaneous, type IV ( Oculocutaneous albinism, type IV [2] )
Albinism, yellow mutant type ( Oculocutaneous albinism, type IB [1] )
Albinoidism ( Oculocutaneous albinism, type II [2] )
Albopapuloid dominant dystrophic EB ( Epidermolysis bullosa dystrophica, autosomal dominant [4] )
Albright hereditary osteodystrophy [14]
Albright hereditary osteodystrophy 3 ( Brachydactyly-mental retardation syndrome [1] )
Albright hereditary osteodystrophy-like syndrome ( Brachydactyly-mental retardation syndrome [1] )
Albright syndrome ( McCune-Albright syndrome [11] )
Alcohol-induced encephalopathy ( Wernicke-Korsakoff syndrome [9] )
Aldosteronism, sensitive to dexamethasone ( Glucocorticoid-remediable aldosteronism [1] )
Aldrich syndrome ( Wiskott-Aldrich syndrome [11] )
Alexander disease [15]
Alexander disease - Prenatal diagnosis [3]
Alkaptonuria [21]
Alkaptonuria - Cardiovascular system [4]
Alkaptonuria - Eyes [8]
Allan-Herndon syndrome ( Allan-Herndon-Dudley syndrome [3] )
Allan-Herndon-Dudley syndrome [3]
Allgrove syndrome ( Triple-A syndrome [8] )
Alobar holoprosencephaly ( Holoprosencephaly, alobar [10] )
Alopecia areata [41]
Alopecia totalis [4]
Alopecia universalis [8]
Alopecia universalis congenita [1]
Alopecia universalis congenita, Mari type ( Hypotrichosis, autosomal recessive [1] )
Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis ( Alpers syndrome [4] )
Alpers progressive infantile poliodystrophy ( Alpers syndrome [4] )
Alpers syndrome [4]
Alpers-Huttenlocher syndrome ( Alpers syndrome [4] )
Alpha thalassemia myelodysplasia syndrome [4]
Alpha thalassemia/mental retardation syndrome, nondeletion type, X linked [3]
Alpha-1,4-glucosidase deficiency ( Glycogen storage disease II [12] )
Alpha-1-antitrypsin deficiency [11]
Alpha-L-fucosidase deficiency ( Fucosidosis [4] )
Alpha-galactosidase A deficiency ( Fabry disease [35] )
Alpha-mannosidase B deficiency ( Mannosidosis, alpha B, lysosomal [4] )
Alpha-mannosidosis ( Mannosidosis, alpha B, lysosomal [4] )
Alpha-mannosidosis, type I ( Mannosidosis, alpha B, lysosomal [4] )
Alpha-mannosidosis, type II ( Mannosidosis, alpha B, lysosomal [4] )
Alport deafness-nephropathy ( Alport syndrome [14] )
Alport syndrome [14]
Alport syndrome - Eyes [3]
Alport syndrome and diffuse leiomyomatosis [3]
Alport syndrome with macrothrombocytopenia ( Epstein syndrome [2] )
Alport syndrome, X-linked [2]
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis ( AMME complex [1] )
Alport syndrome-like hereditary nephritis ( Alport syndrome, X-linked [2] )
Alport/focal segmental glomerulosclerosis-like syndrome ( Nephropathy, progressive, with deafness [1] )
Alstrom syndrome [8]
Amaurosis congenita of Leber ( Leber congenital amaurosis [10] )
Amaurosis congenita of Leber IV ( Leber congenital amaurosis, type IV [3] )
Amaurosis congenita of Leber V ( Leber congenital amaurosis, type V [4] )
Amaurosis congenita of Leber VI ( Leber congenital amaurosis, type VI [1] )
Ambras syndrome [3]
Amelogenesis imperfecta [4]
Amelogenesis imperfecta 1, hypoplastic type [1]
Amelogenesis imperfecta 2, hypocalcification type ( Amelogenesis imperfecta 2, hypoplastic local, autosomal dominant [5] )
Amelogenesis imperfecta 2, hypoplastic local, autosomal dominant [5]
Amelogenesis imperfecta and nephrocalcinosis ( Amelogenesis imperfecta, hypoplastic type, IG [2] )
Amelogenesis imperfecta, X-linked 1 ( Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1 [6] )
Amelogenesis imperfecta, hypomineralization type ( Amelogenesis imperfecta 2, hypoplastic local, autosomal dominant [5] )
Amelogenesis imperfecta, hypoplastic local, autosomal dominant ( Amelogenesis imperfecta, type IB [3] )
Amelogenesis imperfecta, hypoplastic type, IG [2]
Amelogenesis imperfecta, hypoplastic, and openbite malocclusion, autosomal recessive [2]
Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1 [6]
Amelogenesis imperfecta, pigmented hypomaturation type [4]
Amelogenesis imperfecta, type IB [3]
Aminoacylase 2 deficiency ( Canavan disease [13] )
Amniotic band syndrome [13]
Amniotic band syndrome - Prenatal diagnosis [6]
Amniotic bands ( Amniotic band syndrome [13] )
Amniotic bands sequence ( Amniotic band syndrome [13] )
Amputation, congenital ( Amniotic band syndrome [13] )
Amyloid corneal dystrophy, Japanese type ( Corneal dystrophy, gelatinous drop-like [21] )
Amyloid cranial neuropathy with lattice corneal dystrophy ( Amyloidosis V [7] )
Amyloid polyneuropathy, Andrade or Portuguese type [1]
Amyloid polyneuropathy, familial [12]
Amyloidosis IX ( Amyloidosis, primary cutaneous [6] )
Amyloidosis V [7]
Amyloidosis VII [13]
Amyloidosis VIII ( Amyloidosis, familial visceral [3] )
Amyloidosis due to mutant gelsolin ( Amyloidosis V [7] )
Amyloidosis, Ohio type ( Amyloidosis VII [13] )
Amyloidosis, apolipoprotein A-I ( Apolipoprotein A-I amyloidosis [6] )
Amyloidosis, cerebral, with spongiform encephalopathy ( Gerstmann-Sträussler disease [5] )
Amyloidosis, cerebroarterial, APP-related ( Cerebral amyloid angiopathy, APP-related [3] )
Amyloidosis, corneal ( Corneal dystrophy, gelatinous drop-like [21] )
Amyloidosis, familial cutaneous lichen ( Amyloidosis, primary cutaneous [6] )
Amyloidosis, familial renal ( Amyloidosis, familial visceral [3] )
Amyloidosis, familial visceral [3]
Amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant ( Cerebral amyloid angiopathy, APP-related [3] )
Amyloidosis, leptomeningeal ( Amyloidosis VII [13] )
Amyloidosis, meningocerebrovascular ( Amyloidosis VII [13] )
Amyloidosis, oculoleptomeningeal ( Amyloidosis VII [13] )
Amyloidosis, primary cutaneous [6]
Amyloidosis, systemic nonneuropathic ( Amyloidosis, familial visceral [3] )
Amylopectinosis ( Glycogen storage disease IV [1] )
Amyotrophic lateral sclerosis [6]
Amyotrophic lateral sclerosis - Imaging [31]
Amyotrophic lateral sclerosis 4, juvenile [4]
Amyotrophy, hereditary neuralgic [1]
Amyotrophy, hereditary neuralgic, with predilection for brachial plexus ( Amyotrophy, hereditary neuralgic [1] )
Amyotrophy, monomelic [17]
Analphalipoproteinemia ( Tangier disease [10] )
Anauxetic dysplasia [7]
Andersen cardiodysrhythmic periodic paralysis ( Andersen syndrome [4] )
Andersen disease ( Glycogen storage disease IV [1] )
Andersen syndrome [4]
Andersen-Tawil syndrome ( Andersen syndrome [4] )
Anderson disease [4]
Anderson-Fabry disease ( Fabry disease [35] )
Androgen insensitivity syndrome [16]
Androgen receptor deficiency ( Androgen insensitivity syndrome [16] )
Anemia, Fanconi ( Fanconi anemia [12] )
Anemia, congenital erythroid hypoplastic ( Diamond-Blackfan anemia [4] )
Anemia, congenital hypoplastic, of Blackfan and Diamond ( Diamond-Blackfan anemia [4] )
Anemia, dyserythropoietic congenital, type I [1]
Anemia, hereditary sideroblastic ( Anemia, sideroblastic, X-linked [2] )
Anemia, hypochromic ( Anemia, sideroblastic, X-linked [2] )
Anemia, nonspherocytic hemolytic, due to G6PD deficiency ( Glucose-6-phosphate-dehydrogenase deficiency [5] )
Anemia, sickle cell ( Sickle cell anemia [35] )
Anemia, sideroblastic, X-linked [2]
Anemia, sideroblastic, and spinocerebellar ataxia [2]
Anencephaly [15]
Anencephaly - Prenatal diagnosis [5]
Aneurysm, thoracic aortic ( Aortic aneurysm, familial thoracic 1 [1] )
Angelman syndrome [12]
Angioedema, hereditary [2]
Angioedema, hereditary, type I ( Angioedema, hereditary [2] )
Angiokeratoma corporis diffusum ( Fabry disease [35] )
Angiokeratoma, diffuse ( Fabry disease [35] )
Angioma serpiginosum, X-linked [2]
Angioosteohypertrophy syndrome ( Klippel-Trenaunay-Weber syndrome [26] )
Aniridia [3]
Aniridia, type II [12]
Ankyloblepharon-ectodermal defects-cleft lip/palate ( Hay-Wells syndrome [9] )
Ankyloglossia [12]
Ankylosing spondylarthritis ( Spondyloarthropathy [7] )
Ankylosing spondylitis, susceptibility to ( Spondyloarthropathy [7] )
Annular pancreas [33]
Annuloaortic ectasia ( Aortic aneurysm, familial thoracic 1 [1] )
Anodontia, partial ( Hypodontia, autosomal dominant [4] )
Anomalous brachiocephalic vein ( Brachiocephalic vein, anomalous [5] )
Anomalous dysplasia of dentin ( Dentin dysplasia, type II [1] )
Anomalous origin of the coronary artery from the pulmonary artery ( Bland-White-Garland syndrome [10] )
Anomalous pulmonary venous return ( Total anomalous pulmonary venous return [19] )
Anomalous unilateral single pulmonary vein ( Pulmonary vein, anomalous unilateral single [8] )
Anonychia [7]
Anonychia congenita ( Anonychia [7] )
Anophthalmia, clinical, isolated ( Microphthalmia, isolated, 1 [1] )
Anophthalmia, clinical, with associated anomalies ( Microphthalmia, syndromic 3 [1] )
Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm ( Microphthalmia, syndromic 9 [1] )
Anophthalmia-esophageal-genital syndrome ( Microphthalmia, syndromic 3 [1] )
Anophthalmia/microphthalmia and pulmonary hypoplasia ( Microphthalmia, syndromic 9 [1] )
Anorchia, familial ( Testicular regression syndrome [3] )
Anorectal anomalies [38]
Anorectal atresia ( Anorectal anomalies [38] )
Anorectal malformations ( Anorectal anomalies [38] )
Anosmia, congenital [3]
Anosmia, isolated congenital ( Anosmia, congenital [3] )
Anosmic hypogonadism ( Kallmann syndrome 1 [4] )
Anotia [1]
Antley-Bixler syndrome [5]
Antley-Bixler syndrome-like phenotype with disordered steroidogenesis ( POR deficiency [2] )
Antopol disease ( Danon disease [18] )
Antral stenosis [1]
Anus-hand-ear syndrome ( Townes-Brocks syndrome [11] )
Aortic aneurysm, familial thoracic ( Aortic aneurysm, familial thoracic 1 [1] )
Aortic aneurysm, familial thoracic 1 [1]
Aortic aneurysm, familial thoracic 4 [1]
Aortic aneurysm/aortic dissection and patent ductus arteriosus ( Aortic aneurysm, familial thoracic 4 [1] )
Aortic arch interruption ( Aortic arch, interrupted [15] )
Aortic arch, cervical [8]
Aortic arch, double [56]
Aortic arch, double - Prenatal diagnosis [7]
Aortic arch, interrupted [15]
Aortic dissection, familial ( Aortic aneurysm, familial thoracic 1 [1] )
Aorto-ventricular tunnel [5]
Apert syndrome [30]
Apert syndrome - Dental anomalies [24]
Apert-Crouzon disease ( Apert syndrome [30] )
Aphakia, congenital primary [4]
Aphallia [1]
Aphasia, primary progressive ( Frontotemporal lobar degeneration with ubiquitin-positive inclusions [25] )
Aplasia cutis congenita [22]
Aplasia cutis congenita - Histology [3]
Aplasia cutis congenita with gastrointestinal atresia ( Epidermolysis bullosa with pyloric atresia [5] )
Aplasia of cerebellar vermis ( Spinocerebellar ataxia 29 [2] )
Aplasia of tibia with ectrodactyly ( Split-hand/foot malformation with long bone deficiency 1 [2] )
Apolipoprotein A-I amyloidosis [6]
Apolipoprotein B deficiency ( Abetalipoproteinemia [1] )
Appendiceal duplication [5]
Appendix duplication ( Appendiceal duplication [5] )
Apple peel small bowel syndrome ( Jejunal atresia [11] )
Apple peel syndrome ( Jejunal atresia [11] )
Arachnodactyly [4]
Aregenerative anemia, chronic congenital ( Diamond-Blackfan anemia [4] )
Argininosuccinase deficiency ( Argininosuccinic aciduria [1] )
Argininosuccinate lyase deficiency ( Argininosuccinic aciduria [1] )
Argininosuccinic acid lyase deficiency ( Argininosuccinic aciduria [1] )
Argininosuccinic aciduria [1]
Arhinia [2]
Arnold-Chiari malformation [20]
Arnold-Chiari syndrome ( Arnold-Chiari malformation [20] )
Aromatase deficiency [12]
Arteriohepatic dysplasia ( Alagille syndrome [18] )
Arteriovenous fistula, intracranial pial ( Intracranial pial arteriovenous fistula [4] )
Arteriovenous malformation of the kidney, congenital ( Renal arteriovenous malformation, congenital [4] )
Arteriovenous malformations of the brain [71]
Arthrodentoosteodysplasia ( Acroosteolysis with osteoporosis and changes in skull and mandible [11] )
Arthrogryposis multiplex congenita [7]
Arthrogryposis multiplex congenita with pulmonary hypoplasia ( Pena-Shokeir syndrome, type I [3] )
Arthrogryposis multiplex congenita, distal, type 2B ( Arthrogryposis, distal, type 2B [3] )
Arthrogryposis multiplex congenita, distal, type I ( Arthrogryposis, distal, type 1 [1] )
Arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities ( Arthrogryposis, distal, type 2B [3] )
Arthrogryposis multiplex congenita, neurogenic type [1]
Arthrogryposis, distal [5]
Arthrogryposis, distal, type 1 [1]
Arthrogryposis, distal, type 2A ( Freeman-Sheldon syndrome [21] )
Arthrogryposis, distal, type 2B [3]
Arthrogryposis, distal, type 7 ( Trismus-pseudocamptodactyly syndrome [1] )
Arthrogryposis, distal, type 9 ( Contractural arachnodactyly, congenital [4] )
Arthrogryposis, renal dysfunction, and cholestasis [5]
Arthroophthalmopathy, hereditary progressive ( Stickler syndrome, type I [10] )
Arthropathy, progressive pseudorheumatoid, of childhood [4]
Arthropathy-camptodactyly syndrome ( Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [10] )
Arylsulfatase A deficiency ( Metachromatic leukodystrophy [22] )
Arylsulfatase B deficiency ( Mucopolysaccharidosis, type VI [4] )
Ascites, chylous [3]
Aspartoacylase deficiency ( Canavan disease [13] )
Aspartylglucosaminidase deficiency ( Aspartylglucosaminuria [8] )
Aspartylglucosaminuria [8]
Aspartylglycosaminuria ( Aspartylglucosaminuria [8] )
Asphyxiating thoracic dystrophy ( Jeune syndrome [6] )
Asplenia with cardiovascular anomalies [8]
Asternia [1]
Asymmetric crying facies ( Hypoplasia of the depressor anguli oris muscle [5] )
Asymmetric septal hypertrophy ( Cardiomyopathy, familial hypertrophic [3] )
Ataxia with lactic acidosis i ( Pyruvate decarboxylase deficiency [2] )
Ataxia, adult-onset, with oculomotor apraxia ( Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [4] )
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [4]
Ataxia, episodic, with myokymia ( Episodic ataxia, type 1 [1] )
Ataxia, intermittent, with abnormal pyruvate metabolism ( Pyruvate decarboxylase deficiency [2] )
Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency ( Pyruvate decarboxylase deficiency [2] )
Ataxia, spastic, 3, autosomal recessive [1]
Ataxia-ocular apraxia 2 ( Spinocerebellar ataxia, autosomal recessive 1 [2] )
Ataxia-oculomotor apraxia 1 ( Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [4] )
Ataxia-oculomotor apraxia 2 ( Spinocerebellar ataxia, autosomal recessive 1 [2] )
Ataxia-oculomotor apraxia syndrome ( Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [4] )
Ataxia-telangiectasia [7]
Ataxia-telangiectasia variant V1 ( Nijmegen breakage syndrome [14] )
Ataxia-telangiectasia-like syndrome ( Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [4] )
Ateliotic dwarfism with hypogonadism ( Pituitary hormone deficiency, combined [8] )
Athyreotic hypothyroidism ( Thyroid dysgenesis [9] )
Atrichia with papular lesions [7]
Atrichia, generalized ( Alopecia universalis congenita [1] )
Atriodigital dysplasia ( Holt-Oram syndrome [12] )
Atrophia areata ( Sveinsson chorioretinal atrophy [1] )
Atrophia bulborum hereditaria ( Norrie disease [4] )
Atrophodermia reticulata ( Atrophodermia vermiculata [4] )
Atrophodermia reticulata symmetrica faciei ( Atrophodermia vermiculata [4] )
Atrophodermia vermiculata [4]
Auriculocondylar syndrome [1]
Autism, dementia, ataxia, and loss of purposeful hand use ( Rett syndrome [10] )
Autoimmune lymphoproliferative syndrome [21]
Autoimmune lymphoproliferative syndrome, type I, autosomal dominant ( Autoimmune lymphoproliferative syndrome [21] )
Autoimmune lymphoproliferative syndrome, type I, autosomal recessive ( Autoimmune lymphoproliferative syndrome [21] )
Autoimmune lymphoproliferative syndrome, type IA ( Autoimmune lymphoproliferative syndrome [21] )
Autoimmune lymphoproliferative syndrome, type IB ( Autoimmune lymphoproliferative syndrome [21] )
Autoimmune polyendocrine syndrome, type I ( Autoimmune polyendocrinopathy syndrome, type I [4] )
Autoimmune polyendocrinopathy syndrome, type I [4]
Autoimmune polyendocrinopathy syndrome, type I, autosomal dominant ( Autoimmune polyendocrinopathy syndrome, type I [4] )
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy ( Autoimmune polyendocrinopathy syndrome, type I [4] )
Autoimmune polyglandular syndrome, type I ( Autoimmune polyendocrinopathy syndrome, type I [4] )
Autoimmunity-immunodeficiency syndrome, X-linked ( Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked [2] )
Autonomic control, congenital failure ( Central hypoventilation syndrome, congenital [6] )
Autosomal dominant cerebellar ataxia, type II ( Spinocerebellar ataxia 7 [4] )
Autosomal recessive spastic ataxia of Charlevoix-Saguenay ( Spastic ataxia of the Charlevoix-Saguenay type [8] )
Autosomal recessive spastic ataxia with leukoencephalopathy ( Ataxia, spastic, 3, autosomal recessive [1] )
Avellino corneal dystrophy ( Corneal dystrophy, Avellino type [10] )
Axenfeld-Rieger syndrome ( Rieger syndrome, type 1 [16] )
Azoospermia due to perturbations of meiosis ( Spermatogenesis arrest [13] )
Azoospermia with maturation arrest ( Spermatogenesis arrest [13] )
Azoospermia, nonobstructive, Y-linked ( Spermatogenic failure, nonobstructive, Y-linked [3] )
Azorean neurologic disease ( Machado-Joseph disease [10] )
Azygous continuation of the inferior vena cava [2]
Search with keyword(s)
And
Or
Wildcard = *
Print this page
Edited by Aldo Campana, February 8, 2010
