11q partial monosomy syndrome
1720-lyase deficiency
17-alpha-hydroxylase/1720-lyas...
17-beta hydroxysteroid dehydro...
17-Beta-Hydroxysteroid Dehydro...
21-hydroxylase deficiency
21-hydroxylase deficiency inte...
21-hydroxylase deficiency non-...
21-hydroxylase deficiency simp...
21-hydroxylase deficiency with...
21-hydroxylase deficiency with...
2,4-Dienoyl-CoA reductase defi...
25-hydroxyvitamin D deficiency
2-aminoadipic & 2-oxoadipic ac...
2-aminoadipic 2-oxoadipic acid...
2-ketoadipic aciduria
2-methyl-3-hydroxybutyryl-CoA ...
2-methyl-3-hydroxybutyryl-CoA ...
2-Methylbutyryl-CoA dehydrogen...
3 beta-hydroxysteroid dehydrog...
3 beta-Hydroxysteroid dehydrog...
3 beta-hydroxysteroid dehydrog...
3 beta-hydroxysteroid oxidored...
3-hydroxy-3-methylglutaric aci...
3-hydroxyisobutyric aciduria
3-ketothiolase deficiency
3-MCC Deficiency
3MC syndrome
3 Methylcrotonyl-CoA carboxyla...
3-methylcrotonyl CoA carboxyla...
3-methylcrotonyl-CoA carboxyla...
3-methylcrotonyl-Coenzyme A Ca...
3-methylcrotonylglycinuria
3-Methylglutaconic aciduria
3-methylglutaconic aciduria im...
3-methylglutaconic aciduria pr...
3-methylglutaconic aciduria re...
3-methylglutaconic aciduria se...
3-methylglutaconic aciduria ty...
3-Methylglutaconic aciduria ty...
3-Methylglutaconic aciduria ty...
3-Methylglutaconic aciduria ty...
3-methylglutaconic aciduria ty...
3-methylglutaconic aciduria ty...
3-METHYLGLUTACONIC ACIDURIA, T...
3-methylglutaconic aciduria ty...
3-methylglutaconic aciduria, t...
3-methylglutaconic aciduria wi...
3-methylglutaconic aciduria wi...
3-M syndrome
3-oxoacid CoA transferase defi...
3-oxo-Delta(4)-steroid 5beta-r...
3-phosphoglycerate dehydrogena...
3-phosphoserine phosphatase de...
46XX disorder of sex developme...
46XY disorder of sex developme...
46XY disorder of sex developme...
46 XY gonadal dysgenesis
46XY gonadal dysgenesis
46 XY gonadal dysgenesis compl...
46 XY gonadal dysgenesis syndr...
46,XY sex reversal 8
46XY sex reversal & asplenia
46,XY sex reversal, type 1
46,XY sex reversal, type 3
46,XY sex reversal, type 4
46,XY sex reversal, type 5
46,XY sex reversal, type 6
4H syndrome
4p partial monosomy syndrome
6-pyruvoyl-tetrahydropterin sy...
8q24.3 deletion syndrome
9q subtelomeric deletion syndr...
AA amyloidosis
Aarskog-Scott syndrome
Aarskog syndrome
ABCA1-Related Disorders
ABCA3 deficiency
ABCA4 disease
ABCA4-Related Disorders
ABCB11 deficiency
ABCB4 deficiency
Abdominal obesity-metabolic sy...
Aberrant lymphoid immunity
Abetalipoproteinaemia
Ablepharon macrostomia
Abnormal bleeding
Abnormal cortical gyration
Abnormal electroretinogram
Abnormal facial shape
Abnormality of acid-base homeo...
Abnormality of brain morpholog...
Abnormality of carbohydrate me...
Abnormality of cardiovascular ...
Abnormality of coagulation
Abnormality of color vision
Abnormality of connective tiss...
Abnormality of female external...
Abnormality of lipid metabolis...
Abnormality of metabolism/home...
Abnormality of neuronal migrat...
Abnormality of the aortic valv...
Abnormality of the cardiovascu...
Abnormality of the choroid
Abnormality of the connective ...
Abnormality of the dentition
Abnormality of the ear
Abnormality of the endocrine s...
Abnormality of the eye
Abnormality of the genitourina...
Abnormality of the integument
Abnormality of the mitochondri...
Abnormality of the musculature
Abnormality of the musculoskel...
Abnormality of the nail
Abnormality of the nervous sys...
Abnormality of the peripheral ...
Abnormality of the respiratory...
Abnormality of the skeletal sy...
Abnormality of the skin
Abnormality of the thumb
Abnormal platelet aggregation
Abnormal platelet function
Abnormal retinal morphology
Abnormal striatum congenital c...
Abnormal thrombosis
Abnormal thyroid hormone metab...
Abortive cerebellar ataxia
Absence epilepsy early-onset
Absence of collagen-induced pl...
Absence seizures
Absent cochlear nerves
Absent uvula
Absorptive hypercalciuria
Acampomelic campomelic dysplas...
Acanthocytosis
Acanthocytosis due to band 3 h...
Acanthosis nigricans
Acatalasaemia
ACC infantile spasms & abnorma...
ACC mental retardation epileps...
Acephalic spermatozoa syndrome
Aceruloplasminaemia
Acetoacetyl-CoA thiolase defic...
Acetylcholine receptor deficie...
Acetyl-CoA acetyltransferase-2...
Achalasia
Achondrogenesis
Achondrogenesis 1B
Achondrogenesis 2
Achondrogenesis II-hypochondro...
Achondrogenesis II-hypochondro...
Achondrogenesis type 1A
Achondrogenesis, type IA
Achondrogenesis, type II
Achondroplasia
Achondroplasia with severe Pla...
Achromatopsia
Achromatopsia 2
Achromatopsia 3
Achromatopsia 4
Achromatopsia 5
Achromatopsia autosomal recess...
Achromatopsia incomplete
Acid ceramidase deficiency pol...
Acid-labile subunit deficiency
Acinar dysplasia
Acne inversa familial
Acne inversa, familial, 2
ACOX2 deficiency
Acquired immunodeficiency synd...
Acquired long QT syndrome
Acral peeling skin syndrome
Acrocallosal syndrome, Schinze...
Acrocapitofemoral dysplasia
Acrocephalopolysyndactyly type...
Acrodysostosis
Acrodysostosis 1 with or witho...
Acrodysostosis 2
Acrodysostosis 2, with or with...
Acrodysostosis with hormone re...
Acroerythrokeratoderma
Acrofacial dysostosis
Acrofacial dysostosis, Cincinn...
Acrogeria Gottron
Acrogeria syndrome
Acrokeratosis verruciformis
Acrokeratosis verruciformis of...
Acromegaly
Acromesomelic chondrodysplasia...
Acromesomelic Dysplasia
Acromesomelic dysplasia, Demir...
Acromesomelic dysplasia Hunter...
Acromesomelic dysplasia Marote...
Acroscyphodysplasia
ACTH deficiency isolated
ACTH hypersensitivity syndrome
Acth-independent macronodular ...
ACTH-independent macronodular ...
ACTH resistance
Actin myopathy
Activated PI3Kδ syndrome
Activated PI3Kδ syndrome type ...
Activated Protein C resistance
Aculeiform cataract
Acute alcohol sensitivity
Acute aortic dissection
Acute encephalitis with refrac...
Acute haemorrhagic leukoenceph...
Acute intermittent porphyria
Acute lymphoblastic leukaemia
Acute lymphoblastic leukaemia ...
Acute lymphoblastic leukaemia ...
Acute lymphoblastic leukaemia ...
Acute lymphoid leukemia
Acute megakaryoblastic leukemi...
Acute monocytic leukemia
Acute myeloid leukaemia
Acute myeloid leukemia
Acute myeloid leukemia, M6 typ...
Acute neuronopathic Gaucher di...
Acute promyelocytic leukemia
Acyl-CoA dehydrogenase deficie...
Acyl-CoA dehydrogenase deficie...
Acyl-CoA dehydrogenase family,...
Acyl-Coenzyme dehydrogenase 9 ...
ADA2 deficiency
ADA2 deficiency with neutropen...
Adams-Oliver syndrome
Adams-Oliver syndrome 1
Adams-Oliver syndrome 2
Adams-Oliver syndrome 3
Adams-Oliver syndrome 5
Adams-Oliver syndrome 6
ADAMTS13 deficiency
ADAMTS13 deficiency & Upshaw-S...
Addison disease
Addison disease with autoimmun...
Adducted thumb-clubfoot syndro...
Adenine phosphoribosyltransfer...
Adenocarcinoma
Adenocarcinoma of prostate
Adenocarcinoma of the colon
Adenocarcinoma & renal neoplas...
Adenoid cystic carcinoma
Adenoma of hypophisis
Adenomatous polyposis coli
Adenomatous polyposis coli att...
Adenosine deaminase deficiency
Adenosine deaminase deficiency...
Adenosine monophosphate deamin...
Adenosine triphosphate, elevat...
Adenylate kinase deficiency
Adenylate kinase deficiency, h...
Adenylosuccinate lyase deficie...
Adiponectin deficiency
ADK deficiency
Adolescent alopeciam dentoging...
Adolescent idiopathic scoliosi...
Adolescent nephronophthisis
Adrenal failure testicular res...
Adrenal hyperplasia
Adrenal hyperplasia macronodul...
Adrenal hypoplasia
Adrenal hypoplasia with growth...
Adrenal insufficiency
Adrenal insufficiency & 46XY c...
Adrenal insufficiency, congeni...
Adrenal insufficiency & hyposp...
ADRENAL INSUFFICIENCY, NR5A1-R...
Adrenal insufficiency primary
Adrenocortical adenoma
Adrenocortical carcinoma
Adrenocortical hyperplasia
Adrenocortical insufficiency w...
Adrenocorticotropic hormone de...
Adrenoleukodystrophy
Adrenoleukodystrophy with seve...
Adrenoleukodystrophy X-linked
Adrenomyeloneuropathy
Adropin deficiency
ADULT i BLOOD GROUP PHENOTYPE
Adult junctional epidermolysis...
Adult neuronal ceroid lipofusc...
Adult Spinal Cord Ependymoma
ADULT syndrome
ADULT syndrome with cleft pala...
Adult vitelliform macular dyst...
Adult vitelliform macular dyst...
Advanced sleep phase syndrome,...
Advanced sleep phase syndrome,...
AEC-like syndrome with immune ...
AEC syndrome
AFib amyloidosis
Afibrinogenaemia
Afibrinogenaemia / hypofibrino...
Afibrinogenemia
Afibrinogenemia, congenital
Agammaglobulinaemia
Agammaglobulinaemia & B-cell l...
Agammaglobulinaemia & failure ...
Agammaglobulinemia
Agammaglobulinemia 2, autosoma...
Agammaglobulinemia 3, autosoma...
Agammaglobulinemia 4, autosoma...
Agammaglobulinemia 6, autosoma...
Agammaglobulinemia 8, autosoma...
Agammaglobulinemia, non-Bruton...
Aganglionosis in Hirschsprung ...
Aganglionosis total colonic
AGC1 deficiency
Aged appearance & cardiac arrh...
Agenesis of corpus callosum
Agenesis of corpus callosum an...
Agenesis of corpus callosum an...
Agenesis of corpus callosum hy...
Agenesis of corpus callosum & ...
Agenesis of corpus callosum su...
Agenesis of corpus callosum wi...
Age-related cortical cataract
Age-related macular degenerati...
Age-related macular degenerati...
Age-related macular degenerati...
Age-related macular degenerati...
Age-related macular degenerati...
Aggressive behavior
Aggressive periodontitis
AGK-Related Disorders
Agnathia-otocephaly
Agyria
Agyria-pachygyria
Aicardi-Goutières and Singleto...
Aicardi Goutieres syndrome
Aicardi-Goutières syndrome
Aicardi Goutieres syndrome 2
Aicardi Goutieres syndrome 3
Aicardi Goutieres syndrome 4
Aicardi Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 7
AICA-Ribosiduria
AICAR transformylase/IMP cyclo...
Akinesia joint contractures hy...
Alacrima, achalasia, and menta...
Alacrima achalasia & mental re...
ALAD deficiency
Alagille syndrome
Alagille syndrome 1
Alagille syndrome 2
Alagille syndrome with hepatic...
Aland eye disease
Al-Awadi-Raas-Rothschild syndr...
Al-Awadi-Raas-Rothschild syndr...
Alazami-Yuan syndrome
Albinism
Albinism hypomorphic
Albinism nystagmushypopigmenta...
Albinism nystagmusoccular hypo...
Albinism ocular
Albinism oculocutaneous
Albinism oculocutaneous 1
Albinism oculocutaneous 1A
Albinism oculocutaneous 1B
Albinism oculocutaneous 3
Albinism oculocutaneous 4
Albinism oculocutaneous 4 with...
Albinism oculocutaneous 6
Albinism oculocutaneous 7
Albinism oculocutaneous II
Albinism oculocutaneous non-sy...
Albinism, oculocutaneous, type...
Albinism, oculocutaneous, type...
Albright hereditary osteodystr...
Albright hereditary osteodystr...
Aldolase A deficiency
Aldosterone Producing Adrenal ...
Aldosterone synthase deficienc...
Aldosterone synthase deficienc...
Aldosterone synthase deficienc...
Aldosteronism early-onset
Aldosteronism primary
Aldosteronism with bilateral a...
Alexander disease
Alexander Disease
Alexander disease adult onset
Alexander disease neonatal
Alexander disease with flaccid...
ALG12-congenital disorder of g...
Al-Gazali syndrome
Alkaptonuria
Alkyl-DHAP synthase deficiency
Allan-Herndon-Dudley syndrome
Alloimmune thrombocytopaenia f...
Alloimmune thrombocytopaenia n...
Alobar holoprosencephaly
Alopecia congenita keratosis p...
Alopecia mental retardation sy...
Alopecia neurological defects ...
Alopecia, neurologic defects, ...
Alopecia non-syndromic
Alopecia universalis
Alopecia universalis and limb ...
Alopecia universalis congenita
Alopecia with mental retardati...
Alpers-Huttenlocher syndrome
Alpers-like hepatocerebral syn...
Alpers-like syndrome
Alpers syndrome
Alpha-1-antitrypsin deficiency
Alpha-1-antitrypsin deficiency...
Alpha-AASA dehydrogenase defic...
Alpha-aminoadipic & alpha-keto...
Alpha-B crystallinopathy
Alpha/beta T-cell lymphopenia ...
Alpha-dystroglycanopathy
Alpha-dystroglycanopathy with ...
Alpha-ketoglutarate dehydrogen...
Alpha-L-iduronidase pseudodefi...
Alpha-methylacetoacetic acidur...
Alpha methylacyl CoA racemase ...
Alpha-methylacyl-CoA racemase ...
Alpha Thalassaemia
alpha Thalassemia
Alport syndrome
Alport syndrome 1, X-linked re...
Alport syndrome 3, autosomal d...
Alport syndrome autosomal domi...
Alport syndrome, autosomal rec...
Alport syndrome / thin basemen...
Alport syndrome with macrothro...
Alport syndrome X-linked
Al-Raqad syndrome
AL-RAQAD SYNDROME
Altered glycogen and triglycer...
Altered iron status
Altered myosin contractile fun...
Alternating hemiplegia of chil...
Alternating hemiplegia of chil...
Alternating hemiplegia of chil...
Alternating hemiplegia of chil...
Alternating hemiplegia of chil...
Alternating hemiplegia of chil...
Alternating hemiplegia of chil...
Alternating hemiplegia & parti...
Alveolar capillary dysplasia
Alveolar capillary dysplasia /...
Alveolar rhabdomyosarcoma
ALys amyloidosis systemic
Alzheimer disease
Alzheimer disease 19
Alzheimer disease ataxic varia...
Alzheimer disease atypical
Alzheimer disease autosomal do...
Alzheimer disease early onset
Alzheimer disease early-onset
Alzheimer disease early-onset ...
Alzheimer disease early onset ...
Alzheimer disease early-onset ...
Alzheimer disease early-onset ...
Alzheimer disease early-onset ...
Alzheimer disease early-onset ...
Alzheimer disease, familial, 3...
Alzheimer disease, familial, 3...
Alzheimer disease, familial, w...
Alzheimer disease/frontotempor...
Alzheimer disease increased ri...
Alzheimer disease late onset
Alzheimer disease late-onset
Alzheimer disease, type 1
Alzheimer disease, type 3
Alzheimer disease, type 4
Alzheimer disease with epileps...
Alzheimer disease with spastic...
Ambiguous genitalia and psycho...
Amegakaryocytic thrombocytopae...
Amelogenesis imperfecta
Amelogenesis imperfecta autoso...
Amelogenesis Imperfecta, Domin...
Amelogenesis imperfecta & ging...
Amelogenesis imperfecta hypoca...
Amelogenesis imperfecta & hypo...
Amelogenesis imperfecta, hypom...
Amelogenesis imperfecta hypopl...
Amelogenesis imperfecta - hypo...
Amelogenesis imperfecta nonsyn...
Amelogenesis Imperfecta, Reces...
Amelogenesis imperfecta, type ...
Amelogenesis imperfecta, type ...
AMELOGENESIS IMPERFECTA, TYPE ...
Amelogenesis imperfecta, type ...
Amelogenesis imperfecta with t...
Aminoacylase 1 deficiency
Aminoacylase I deficiency
Aminoacyl-tRNA synthetase-rela...
Amish lethal microcephaly
Ampullary cancer
Amyloidangiopathy
Amyloidogenic transthyretin am...
Amyloidosis
Amyloidosis cardiac
Amyloidosis cardiac and cutane...
Amyloidosis, cardiac and cutan...
Amyloidosis cardiac and system...
Amyloidosis cardiac late-onset
AMYLOIDOSIS, LEPTOMENINGEAL, T...
Amyloidosis meningocerebrovasc...
Amyloidosis oculoleptomeningea...
Amyloidosis primary cutaneous
Amyloidosis, primary localized...
Amyloidosis renal
Amyloidosis systemic
Amyloidosis transthyretin
Amyloidosis vitreous
Amyloidosis with cardiomyopath...
Amyloidosis with renal insuffi...
Amyloidotic neurodegeneration
Amyloid polyneuropathy
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
AMYOTROPHIC LATERAL SCLEROSIS ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic Lateral Sclerosis,...
Amyotrophic lateral sclerosis/...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis,...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophic lateral sclerosis ...
Amyotrophy, hereditary neuralg...
Amyotrophy neuralgic
Anadysplasia-like, spontaneous...
Anaemia
Anaemia and renal tubular acid...
Anaemia dyserythropoietic cong...
Anaemia dyserythropoietic cong...
Anaemia dyserythropoietic cong...
Anaemia erythropoietic congeni...
Anaemia hyperuricaemia and chr...
Anaemia hypochromic microcytic
Anaemia hypoplastic
Anaemia hypouricosuric hyperur...
Anaemia with hypochromia & mic...
Analbuminaemia
Anaplastic astrocytoma in Coff...
Anaplastic ependymoma
Anaplastic large cell lymphoma
Anaplastic large cell lymphoma...
Anauxetic dysplasia
Anauxetic dysplasia 2
Andermann syndrome
Andersen syndrome
Andersen syndrome & catecholam...
Andersen Tawil syndrome
Andersen-Tawil syndrome
Andersen-Tawil syndrome with r...
Androgen excess
Androgen insensitivity, partia...
Androgen insensitivity syndrom...
Androgen insensitivity syndrom...
Androgen insensitivity syndrom...
Androgen insensitivity syndrom...
Androgen resistance syndrome
Anemia
Anemia, hypochromic microcytic...
Anemia, nonspherocytic hemolyt...
ANEMIA, PERINATAL HEMOLYTIC, F...
Anemia sideroblastic and spino...
Anemia, sideroblastic, pyridox...
Anencephalus
Anencephaly autosomal recessiv...
Aneurysm & dyslipidaemia
Angelman syndrome
Angioedema
Angioedema hereditary
Angioedema hereditary with nor...
Angioid streaks
Angiokeratoma corporis diffusu...
Angioneurotic oedema
Angiopathy, hereditary, with n...
Angiopathy nephropathy aneurys...
Angiosarcoma
Angiotensin i-converting enzym...
Anhaptoglobinaemia
Anhidrosis
Anhidrosis heat intolerance & ...
Anhidrosis, isolated, with nor...
Aniridia
Aniridia 1
Aniridia 3
Aniridia, atypical
ANKRD1-related dilated cardiom...
Ankyloblepharon filiforme adna...
Ankylosing spondylitis
Anogenital papular acantholyti...
Anomalies of testicular functi...
Anonychia
Anophthalmia
Anophthalmia and microphthalmi...
Anophthalmia and sclerocornea
Anophthalmia bilateral
Anophthalmia growth delays int...
Anophthalmia & isolated growth...
Anophthalmia - microphthalmia
Anophthalmia / microphthalmia
Anophthalmia/microphthalmia
Anophthalmia-microphthalmia sy...
Anophthalmia / microphthalmia ...
Anophthalmia-oesophageal-genit...
Anophthalmos with limb anomali...
Anorchia bilateral
Anorectal malformation
Anorectal malformation hypopla...
Anorectal malformations with r...
Anorexia nervosa/bulimia nervo...
Anosmia
Anosmia isolated congenital
Antenatal Bartter Syndrome
Antenatal/neonatal Bartter syn...
Anterior segment anomalies
Anterior segment anomalies and...
Anterior segment defect with g...
Anterior segment dysgenesis
Anterior segment dysgenesis 3
Anterior segment dysgenesis 7
Anteverted nares
Antibody deficiency
Antibody deficiency primary
Antibody deficiency with vascu...
Antiplasmin alpha 2 deficiency
Anti-plasmin deficiency, conge...
Antithrombin deficiency
Antithrombin deficiency type I
Antithrombin deficiency type I...
Antley-Bixler syndrome
Antley-Bixler syndrome with ge...
AnWj-negative blood group
Anxiety
Aortic aneurysm
Aortic aneurysm/dissection in ...
Aortic aneurysm early onset
Aortic aneurysm, familial thor...
Aortic aneurysm, familial thor...
Aortic aneurysm, familial thor...
Aortic aneurysm, familial thor...
Aortic aneurysm, familial thor...
Aortic aneurysm, familial thor...
Aortic aneurysm thoracic
Aortic dilatation
Aortic disease
Aortic dissections
Aortic stenosis
Aortic valve atresia
Aortic valve disease
Aortic valve disease 2
Aortic valve disorder
APC-Associated Polyposis Disor...
APECED
Apert syndrome
Aphasia progressive nonfluent
Apical left ventricular aneury...
APLAID syndrome and cutis laxa
Aplasia of lacrimal and saliva...
Aplastic anaemia
Aplastic anaemia / myelodyspla...
Aplastic anaemia / myelodyspla...
Aplastic anaemia / myelodyspla...
Aplastic anaemia & pulmonary f...
Aplastic anaemia / thrombocyto...
Aplastic anemia
Aplastic anemias
ApoAI amyloidosis with liver a...
Apocrine gland secretion, vari...
Apolipoprotein A1 deficiency
Apolipoprotein A-I deficiency
Apolipoprotein C3 deficiency
Apolipoprotein E deficiency
Apparent mineralocorticoid exc...
Apparent mineralocorticoid exc...
Arginase deficiency
Arginase I deficiency
Arginase I deficiency with hyp...
Argininaemia
Arginine:glycine amidinotransf...
Argininosuccinate lyase defici...
Argininosuccinate lyase defici...
Argininosuccinic aciduria
Argyrophilic grain disease
Arhinia
Arhinia choanal atresia microp...
Aromatase deficiency
Aromatic L-amino acid decarbox...
Arrhythmia
Arrhythmia & myofibrillar myop...
Arrhythmogenic cardiomyopathy
Arrhythmogenic left ventricula...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arrhythmogenic right ventricul...
Arterial dissection
Arterial & joint calcification...
Arterial & joint calcification...
Arterial tortuosity
Arterial tortuosity syndrome
Arteriohepatic dysplasia
Arteriovenous malformation
Arthritis
Arthritis isolated
Arthritis juvenile
Arthrogryposis
ARTHROGRYPOSIS, CLEFT PALATE, ...
Arthrogryposis distal
Arthrogryposis distal 2B & myo...
Arthrogryposis distal type 1
Arthrogryposis distal type 2A
Arthrogryposis distal type 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2...
ARTHROGRYPOSIS, DISTAL, TYPE 2...
Arthrogryposis distal type 5D
Arthrogryposis lethal
Arthrogryposis, mental retarda...
Arthrogryposis multiplex conge...
Arthrogryposis multiplex conge...
Arthrogryposis multiplex conge...
Arthrogryposis multiplex conge...
Arthrogryposis multiplex conge...
Arthrogryposis multiplex conge...
Arthrogryposis multiplex conge...
Arthrogryposis multiplex conge...
Arthrogryposis multiplex conge...
Arthrogryposis, perthes diseas...
Arthrogryposis renal dysfuncti...
Arthrogryposis, renal dysfunct...
Arthrogryposis, renal dysfunct...
Arthrogryposis severe with dev...
Arthrogryposis with anterior h...
Arthrogryposis with pterygia
Arthyrgryposis, distal, type 2...
Arts syndrome
Arts syndrome (phosphoribosylp...
Arylsulfatase A pseudodeficien...
Arylsulfatase a pseudodeficien...
Asparagine synthetase deficien...
Aspartylglucosaminuria
Asperger syndrome and associat...
Asperger syndrome & schizophre...
Asperger syndrome X-linked 2
Asphyxiating thoracic dystroph...
Asphyxiating thoracic dystroph...
Asphyxiating thoracic dystroph...
Asphyxiating thoracic dystroph...
Asplenia
Asplenia isolated congenital
Asplenia, isolated congenital
Asplenia syndrome
Asthenospermia
Asthenozoospermia
Asthma
Asthma, nasal polyps, and aspi...
Astrocytoma
Ataxia
Ataxia and muscle hypotonia
Ataxia and spastic paraparesis
Ataxia cerebellar hypoplasia
Ataxia childhood-onset & cardi...
Ataxia/Dystonia/Spasticity/Myo...
Ataxia early-onset
Ataxia early-onset with ocular...
Ataxia epilepsy & cataract
Ataxia & hypogonadism
Ataxia infantile onset with he...
Ataxia isolated vitamin E defi...
Ataxia isolated vitamin E defi...
Ataxia late-onset
Ataxia mental retardation and ...
Ataxia motor and speech delay ...
Ataxia & muscle weakness
Ataxia & myoclonic epilepsy
Ataxia non-progressive congeni...
Ataxia-ocular apraxia 1
Ataxia-ocular apraxia 2
Ataxia-oculomotor apraxia 3
Ataxia-oculomotor apraxia 4
Ataxia-oculomotor apraxia type...
Ataxia-pancytopaenia syndrome
Ataxia progressive childhood-o...
Ataxia rapid-onset
Ataxia, sensory, autosomal dom...
Ataxia, spastic, 2, autosomal ...
Ataxia, spastic, 3, autosomal ...
Ataxia, spastic, 4, autosomal ...
Ataxia telangiectasia
Ataxia telangiectasia atypical
Ataxia telangiectasia atypical...
Ataxia telangiectasia late-ons...
Ataxia telangiectasia-like dis...
Ataxia-telangiectasia-like dis...
Ataxia-telangiectasia-like dis...
Ataxia-telangiectasia-like dis...
Ataxia telangiectasia-like DNA...
Ataxia telangiectasia mild
Ataxia-telangiectasia syndrome
Ataxia telangiectasia variant
Ataxia-telangiectasia without ...
Ataxia with myoclonus
Ataxia with Oculomotor Apraxia
Ataxia with oculomotor apraxia...
Ataxia with vitamin E deficien...
Ataxic neuropathy
Ateleiotic dwarfism
Atelosteogenesis
Atelosteogenesis 2
Atelosteogenesis 2/diastrophic...
Atelosteogenesis type 1
Atelosteogenesis type 2
Atelosteogenesis type 3
Atelosteogenesis type I
Athabaskan brainstem dysgenesi...
Atherosclerosis diabetes melli...
Atherosclerosis premature
Atopic dermatitis
Atopy
Atopy with immune deficiency &...
ATP8B1 deficiency
ATP synthase deficiency
Atransferrinaemia
Atransferrinemia
Atrial and/or ventricular sept...
Atrial and ventricular septal ...
Atrial fibrillation
Atrial fibrillation and bradyc...
Atrial fibrillation early-onse...
Atrial fibrillation familial
Atrial fibrillation, familial,...
Atrial fibrillation, familial,...
Atrial fibrillation, familial,...
Atrial fibrillation, familial,...
Atrial fibrillation, familial,...
Atrial fibrillation, familial,...
Atrial fibrillation, familial,...
Atrial fibrillation, familial,...
Atrial fibrillation increased ...
Atrial fibrillation lone early...
Atrial fibrillation nocturnal
Atrial fibrillation, somatic
Atrial septal defect
Atrial septal defect 1
Atrial septal defect 2
Atrial septal defect 3
Atrial septal defect 4
Atrial septal defect 5
Atrial septal defect 6
Atrial septal defect 7 with or...
Atrial septal defect and pulmo...
Atrial septal defect-atriovent...
Atrial septal defect ostium se...
Atrial septal defects patent f...
Atrial septal defects & postax...
Atrial septal defect with extr...
Atrial septal defect with pulm...
Atrichia
Atrichia with papular lesions
Atrioventricular block
Atrioventricular canal defect
Atrioventricular canal defects
Atrioventricular septal defect
Atrioventricular septal defect...
Atrioventricular septal defect...
Atrioventricular septal defect...
Atrioventricular septal defect...
Atrioventricular septal defect...
Atrioventricular septal defect...
Atrioventricular septal defect...
Atrioventricular septal defect...
Atrioventricular septum defect
Atrioventricular septum defect...
Atrophia bulborum hereditaria
Attention deficit hyperactivit...
Attenuated ligand activation
atypical cerebral palsy
Atypical hemolytic uremic synd...
Atypical hemolytic-uremic synd...
Atypical hemolytic-uremic synd...
Atypical hemolytic-uremic synd...
Atypical hemolytic-uremic synd...
Atypical hemolytic-uremic synd...
Atypical hemolytic-uremic synd...
Atypical neonatal progeria wit...
Atypical Rett syndrome
Atypical rett syndrome & intra...
Atypical rolandic epilepsy abs...
Atypical rolandic epilepsy ver...
Atypical SCID/Omenn syndrome
Atypical teratoid/rhabdoid tum...
Auditory neuropathy
Auditory neuropathy and optic ...
AUDITORY NEUROPATHY AND OPTIC ...
Auditory neuropathy, autosomal...
Auditory neuropathy retinitis ...
Auditory neuropathy spectrum d...
Au-Kline syndrome
AU-KLINE SYNDROME
Auriculocondylar syndrome
Auriculocondylar syndrome 1
Auriculocondylar syndrome 2
Autism
Autism 1
Autism 15
Autism 5
Autism and borderline short QT...
Autism & epilepsy
Autism / epilepsy
Autism intellectual disability...
Autism & mental retardation
Autism seizures & intellectual...
Autism spectrum disorder
Autism spectrum disorder and m...
Autism spectrum disorder epile...
Autism spectrum disorder & int...
Autism spectrum disorder / int...
Autism spectrum disorder intel...
Autism spectrum disorder intel...
Autism spectrum disorder modif...
Autism spectrum disorders deve...
Autism spectrum disorder susce...
Autism spectrum disorder with ...
Autism, susceptibility to, 18
Autism, susceptibility to, X-l...
Autism, susceptibility to, X-l...
Autism, susceptibility to, X-l...
Autism, susceptibility to, X-l...
Autism, susceptibility to, X-l...
Autism with epilepsy
Autistic behavior
Autistic behaviour
Autistic disorder of childhood...
Autoimmune disease
Autoimmune disease early onset...
Autoimmune disease, multisyste...
Autoimmune disease, syndromic ...
Autoimmune enterocolitis
Autoimmune hepatitis 2
Autoimmune interstitial lung, ...
Autoimmune lymphoproliferative...
Autoimmune lymphoproliferative...
Autoimmune lymphoproliferative...
Autoimmune lymphoproliferative...
Autoimmune lymphoproliferative...
Autoimmune lymphoproliferative...
Autoimmune lymphoproliferative...
Autoimmune lymphoproliferative...
Autoimmune lymphoproliferative...
Autoimmune lymphoproliferatiVe...
Autoimmune manifestations earl...
Autoimmune-mediated lung disea...
Autoimmune polyendocrinopathy ...
Autoimmune polyglandular syndr...
Autoimmune polyglandular syndr...
Autoimmune thyroid disease
Autoimmunity
Autoimmunity early-onset
Autoimmunity hypogammaglobulin...
Autoinflammation, antibody def...
Autoinflammation immunodeficie...
Autoinflammation, panniculitis...
Autoinflammation with arthriti...
Autoinflammation with infantil...
Autoinflammation with recurren...
Autoinflammatory disease
Autoinflammatory disease cold-...
Autoinflammatory disease inclu...
Autoinflammatory disease with ...
Autoinflammatory periodic feve...
Autosomal dominant hypophospha...
Autosomal dominant isolated so...
Autosomal dominant limb-girdle...
Autosomal dominant limb-girdle...
Autosomal dominant nocturnal f...
Autosomal dominant non-syndrom...
Autosomal dominant optic atrop...
Autosomal dominant progressive...
Autosomal dominant progressive...
Autosomal dominant progressive...
Autosomal dominant progressive...
Autosomal dominant torsion dys...
Autosomal recessive axonal her...
Autosomal recessive axonal neu...
Autosomal recessive centronucl...
Autosomal recessive cerebellar...
Autosomal recessive congenital...
Autosomal recessive congenital...
Autosomal recessive congenital...
Autosomal recessive congenital...
Autosomal recessive congenital...
Autosomal recessive cutis laxa...
Autosomal recessive cutis laxa...
Autosomal recessive cutis laxa...
Autosomal recessive cutis laxa...
Autosomal recessive hypohidrot...
Autosomal recessive hypophosph...
Autosomal recessive non-syndro...
Autosomal recessive non-syndro...
Autosomal recessive polycystic...
Autosomal recessive sideroblas...
Autosomal recessive woolly hai...
Autosomal recessive woolly hai...
Avascular necrosis of the femu...
Avascular necrosis of the head...
Avellino corneal dystrophy
Axenfeld anomaly with glaucoma
Axenfeld-Rieger anomaly
Axenfeld-Rieger anomaly & cong...
Axenfeld-Rieger anomaly glauco...
Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome type ...
Axenfeld-Rieger syndrome type ...
Axenfeld-Rieger syndrome with ...
Axial hypotonia intellectual d...
Axial myopathy late-onset
Axial myopathy, late-onset
Axial spondyloarthritis dyspla...
Axonal neuropathy
Axonal neuropathy early-onset
Axonal neuropathy sensorimotor
Axonal neuropathy severe early...
Axonal neuropathy spasticity a...
Axonal neuropathy with giant a...
Axonal neuropathy with neuromy...
Axonal polyneuropathy childhoo...
Axonal polyneuropathy late-ons...
Axonal sensorimotor polyneurop...
Ayme-gripp syndrome
Ayme-Gripp syndrome
Azoospermia
Azoospermia non-obstructive
Azoospermia non-obstructive an...
Azoospermia/premature ovarian ...
Azoospermia secretory
Azorean disease
B3GALNT1 deficiency (P1K pheno...
B3GALNT1 deficiency (P2K pheno...
BACH2-related immunodeficiency...
Baller-Gerold syndrome
Bamforth syndrome
Band heterotopia
Band-like calcification simpli...
Bannayan-Riley-Ruvalcaba syndr...
Bannayan-Zonana syndrome
BAP1 tumour predisposition syn...
Baraitser-Winter cerebrofronto...
Baraitser-Winter syndrome
Baraitser-Winter Syndrome 2
Barakat syndrome
Barber-Say syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome 19
Bardet-Biedl syndrome 21
Bardet-biedl syndrome 2/6, dig...
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome modifier...
Bare lymphocyte syndrome
Bare lymphocyte syndrome 2
Bare lymphocyte syndrome compl...
Bare lymphocyte syndrome type ...
Bare lymphocyte syndrome, type...
Barrett esophagus/esophageal a...
Barrett neoplasia
Barrett oesophagus/oesophageal...
Barth syndrome
Bartsocas-Papas syndrome
Bartter-Gitelman syndrome
Bartter syndrome
Bartter syndrome 3
Bartter syndrome 4 digenic
Bartter syndrome antenatal
Bartter syndrome, type 1, ante...
Bartter syndrome, type 2, ante...
Bartter syndrome type 3
Bartter syndrome type 4
Bartter syndrome, type 4b
Bartter syndrome, type 5, ante...
Bartter syndrome type I
Bartter syndrome type II
Bartter syndrome type IV
Bartter syndrome with sensorin...
Basal cell carcinoma
Basal cell carcinoma, somatic
Basal ganglia calcification id...
Basal ganglia calcification, i...
Basal ganglia calcification, i...
Basal ganglia degeneration and...
Basal ganglia disease biotin-r...
Basal laminar drusen
Basel-Vanagaite-Smirin-Yosef s...
B-cell deficiency & alopecia
B-cell lymphoproliferative syn...
BCG infection
BCS1L mitopathies
Beaded hair
Beare-Stevenson cutis gyrata s...
Beaulieu-Boycott-Innes syndrom...
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome wi...
Beemer-Langer syndrome
Behavioral abnormality
Behavior disorder
Behavioural abnormalities and ...
Behçet disease
Behçet disease with recurrent ...
Behçet-like small vessel vascu...
Behcet syndrome
Behr syndrome early-onset
Benign epilepsy with centrotem...
Benign familial hematuria
Benign familial infantile epil...
Benign familial infantile seiz...
Benign familial neonatal-infan...
Benign familial neonatal seizu...
Benign familial neonatal seizu...
Benign familial neonatal seizu...
Benign fleck retina
Benign haematuria
Benign hereditary chorea
Benign Neonatal Epilepsy
Benign recurrent intrahepatic ...
Benign recurrent intrahepatic ...
Benign Rolandic epilepsy
Bent bone dysplasia
Bent bone dysplasia syndrome
Berardinelli-Seip lipodystroph...
Berger disease
Bernard Soulier syndrome
Bernard-Soulier syndrome
Bernard-Soulier syndrome, type...
Bernard-Soulier syndrome, type...
Bernard-Soulier syndrome, type...
Bernard-Soulier syndrome type ...
Best macular dystrophy
Bestrophinopathy
Bestrophinopathy angle-closure...
Bestrophinopathy autosomal rec...
Bestrophinopathy, autosomal re...
Best vitelliform macular dystr...
Beta-D-mannosidosis
Beta-enolase deficiency
Beta-hexosaminidase pseudodefi...
Beta-hydroxyisobutyryl-CoA dea...
Beta-ketothiolase deficiency
Beta-sarcoglycanopathy
Beta thalassaemia
Beta thalassaemia modifier of
beta Thalassemia
Beta thalassemia major
Beta-ureidopropionase deficien...
Bethlem myopathy
Bethlem myopathy 1
Beukes hip dysplasia
BH4-Deficient Hyperphenylalani...
Bicornuate uterus
Bicuspid aortic valve
Bicuspid aortic valve & thorac...
Bietti crystalline corneoretin...
Bietti crystalline dystrophy
Bifunctional peroxisomal enzym...
Bilateral anophthalmia intelle...
Bilateral anterior pyramidal c...
Bilateral Coats disease
Bilateral colobomata
Bilateral colobomatous microph...
Bilateral cryptorchidism
Bilateral facial palsy hearing...
Bilateral kidney agenesis geni...
Bilateral kidney agenesis & ol...
Bilateral kidney / bladder age...
Bilateral kidney hypoplasia wi...
Bilateral microphthalmia
Bilateral microphthalmia prima...
Bilateral occipital pachygyria
Bilateral optic nerve anomalie...
Bilateral persistant fetal vas...
Bilateral ptosis
Bilateral retinal colobomata
Bilateral sensorineural hearin...
Bilateral striatal necrosis
Bile acid amidation defect
Bile acid malabsorption primar...
Bile acid malabsorption, prima...
Bile acid synthesis defect, co...
Bile acid synthesis defect, co...
Bile acid synthesis defect, co...
Bile acid synthesis defect, co...
Biliary atresia extrahepatic
Biliary tract cancer
Biotinidase deficiency
Biotin-thiamine-responsive bas...
Bipolar affective disorder
Bipolar disorder
Bipolar spectrum disorder
Birbeck granule deficiency
Birbeck granules deficiency
Birk Barel mental retardation ...
Birt-Hogg-Dubé syndrome
Bisalbuminaemia
Bisphosphoglycerate mutase def...
Bjornstad syndrome with mild m...
Bladder cancer
Bladder cancer, somatic
Bladder carcinoma
Bladder disease non-syndromic
Bladder exstrophy
Blastoma pleuropulmonary
Blau arteritis
Blau syndrome
Bleeding-associated platelet d...
Bleeding diathesis
Bleeding disorder
Bleeding disorder, platelet-ty...
BLEEDING DISORDER, PLATELET-TY...
Bleeding tendency severe
Blepharitis
Blepharocheilodontic syndrome
Blepharocheilodontic syndrome ...
Blepharophimosis-ptosis-intell...
Blepharospasm
Blepharospasm benign essential
Blepharospasm oromandibular dy...
Blindness
BLOOD GROUP--LUTHERAN INHIBITO...
Bloom-like syndrome
Bloom syndrome
Blue cone monochromatism
B Lymphoblastic Leukemia/Lymph...
B lymphoblastic leukemia lymph...
B-Lymphoblastic Leukemia/Lymph...
B Lymphoblastic Leukemia/Lymph...
BMP4-Related Syndromic Microph...
Body mass index quantitative t...
BODY MASS INDEX QUANTITATIVE T...
Body mass index quantitative t...
Bombay phenotype
Bone fragility
Bone fragility autosomal reces...
Bone fragility with contractur...
Bone marrow failure/myelodyspl...
Bone marrow failure syndrome
Bone marrow failure syndrome 1
Bone marrow failure syndrome 3
BONE MARROW FAILURE SYNDROME 4
Bone mineral density quantitat...
Bone Mineral Density Variation
Bone overgrowth
Boomerang dysplasia
Borderline HbA2 level
Borjeson-Forssman-Lehmann synd...
Bosch-Boonstra-Schaaf optic at...
Bosma arhinia microphthalmia s...
Bothnia dystrophy
Brachial amyotrophic diplegia
Brachycephaly
Brachydactyly
Brachydactyly-Mental Retardati...
Brachydactyly/oligodactyly
Brachydactyly-syndactyly-oligo...
Brachydactyly type A1
Brachydactyly, type a1, c
Brachydactyly, type a1, d
Brachydactyly type A2
Brachydactyly type B
Brachydactyly, type B1Robinow ...
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type E
Brachydactyly type E2
Brachydactyly type E2 and obes...
Brachydactyly type E & short s...
Brachydactyly with hypertensio...
Brachyolmia
Brachyolmia autosomal dominant
Brachytelephalangic chondrodys...
Bradycardia & left ventricular...
Bradyopsia
BRAIN ABNORMALITIES, NEURODEGE...
Brain arteriovenous malformati...
Brain atrophy white matter dis...
Brain calcification
Brain hypometabolism & neurode...
Brain malformations
Brain small vessel disease 1 w...
BRAIN SMALL VESSEL DISEASE 3
Brain small vessel disease wit...
Brain small vessel disease wit...
Brainstem glioma
Brain-thyroid-lung syndrome
Branched-chain keto acid dehyd...
Branched-chain organic aciduri...
Branchio-otic-renal syndrome
Branchio-otic syndrome
Branchiootic syndrome
Branchiootic syndrome 3
Branchiootorenal Spectrum Diso...
Branchio-oto-renal syndrome
Branchiootorenal syndrome 2
BRAT1-associated neurodegenera...
Breast and colon cancer
Breast and colorectal cancer
Breast and haematologic cancer
Breast and/or ovarian cancer
Breast and/or ovarian cancer w...
breast cancer
Breast cancer
Breast cancer early-onset
Breast cancer female
Breast cancer increased risk
Breast cancer male
Breast cancer non-BRCA1/BRCA2 ...
Breast cancer premenopausal
Breast cancer susceptibility t...
Breast cancer, susceptibility ...
Breast carcinoma
Breast-ovarian cancer, familia...
Breast-ovarian cancer, familia...
Breast-ovarian cancer, familia...
Brittle cornea syndrome
Brittle cornea syndrome 1
Brittle cornea syndrome 2
Broad forehead
Brody myopathy
Brody myopathy with malignant ...
Bronchiectasis
Bronchiectasis with or without...
Bronchiectasis with or without...
Brooke-Spiegler syndrome
Brown-Vialetto-Van Laere / Faz...
Brown-Vialetto-Van Laere syndr...
Brown-Vialetto-Van Laere syndr...
Brown-Vialetto-Van Laere syndr...
Bruck syndrome 1
Brugada syndrome
Brugada syndrome 1
Brugada syndrome 2
Brugada syndrome 4
Brugada syndrome 5
Brugada syndrome 6
Brugada syndrome 7
Brugada syndrome 8
Brugada syndrome 9
Brugada syndrome (shorter-than...
Bruising susceptibility
Brunner syndrome
Budd-Chiari syndrome
Bull eye macular dystrophy
Bullous erythroderma ichthyosi...
Bullous ichthyosiform erythrod...
Bulls eye maculopathy
Burkitt lymphoma
Buschke-Ollendorff syndrome
Butyrylcholinesterase deficien...
C1q deficiency
C1Q deficiency type A
C1Q deficiency type B
C1Q deficiency type C
C3 glomerulonephritis
C3 glomerulopathy
C3 glomerulopathy & autoinflam...
CADASIL
CADASIL with cysteine replacem...
CADASIL with haemorrhagic stro...
CADASIL with intracerebral hae...
Cafe-au-lait macules with non-...
Cafe-au-lait spot
Cafe-au-lait spots & Noonan sy...
Caffey disease
Calcification of joints and ar...
Calcified aortic valve with as...
Calcium oxalate urolithiasis
Calcium phosphate disease
CALFAN syndrome
Calpainopathy
CAMOS
Campomelic dysplasia
Campomelic dysplasia with auto...
Campomelic dysplasia with smal...
Camptodactyly fifth finger
Camptodactyly tall stature and...
Camptodactyly, tall stature, a...
Camptomelic dysplasia
Camurati-Engelmann disease
Canale-Smith syndrome
Canavan disease
Cancer
Cancer hereditary
Cancer increased risk
Cancer of the pancreas
Cancer progression and tumor c...
Candida endophthalmitis adult-...
Candidiasis, familial, 2
Candidiasis, familial, 6
Candidiasis, familial, 8
Candidiasis, familial, 9
CANDLE syndrome
Cantú syndrome
Cantú syndrome with pituitary ...
Cap disease
Capillary malformation
Capillary malformation-arterio...
Capillary malformation-arterio...
Capillary malformation-arterio...
Capillary malformation of the ...
Cap myopathy
Cap myopathy 2
Cap myopathy autosomal dominan...
CAPN3-Related Disorders
CAPOS syndrome
CARASAL
CARASIL
CARASIL without alopecia
Carbamoyl phosphate synthetase...
Carbohydrate-deficient glycopr...
Carbohydrate-deficient glycopr...
Carbonic anhydrase deficiency
Carbonic anhydrase I deficienc...
Carbonic anhydrase I, Guam
Carbonic anhydrase VA deficien...
Carbonic anhydrase VA deficien...
Carboxypeptidase deficiency
Carcinoma
Carcinoma of esophagus
Carcinoma of pancreas
CARD9 deficiency
Cardiac abnormalities
Cardiac angiosarcoma
Cardiac arrest
Cardiac arrest in infancy
Cardiac arrhythmia
Cardiac arrhythmia, ankyrin B-...
Cardiac arrhythmia with muscul...
Cardiac conduction block
Cardiac conduction defect, non...
Cardiac conduction defects
Cardiac conduction disease
Cardiac conduction disease iso...
Cardiac conduction disease wit...
Cardiac defects
Cardiac defects palate abnorma...
Cardiac defects skeletal abnor...
Cardiac disease
Cardiac dysrhythmia
CARDIAC, FACIAL, AND DIGITAL A...
Cardiac glycogenosis
Cardiac hypertrophy
Cardiac laterality defects
Cardiac malformation
Cardiac malformations
Cardiac paraganglioma
Cardiac & septal hypertrophy
Cardiac & skeletal dysplasia
CARDIAC-UROGENITAL SYNDROME
Cardiac valvular dystrophy
Cardiac valvulopathy keloid sc...
Cardiocutaneous progeria with ...
Cardioencephalomyopathy fatal ...
Cardioencephalomyopathy, fatal...
Cardioencephalomyopathy, fatal...
Cardioencephalomyopathy, fatal...
Cardioencephalomyopathy, fatal...
Cardio-facio-cutaneous syndrom...
Cardiofaciocutaneous syndrome ...
Cardiofaciocutaneous syndrome ...
Cardiofaciocutaneous syndrome ...
Cardiofaciocutaneous syndrome ...
Cardio-facio-cutaneous syndrom...
Cardiomyopathy
Cardiomyopathy arrhythmogenic
Cardiomyopathy arrhythmogenic ...
Cardiomyopathy arrhythmogenic ...
Cardiomyopathy atrial dilated
Cardiomyopathy autosomal domin...
Cardiomyopathy dilated
Cardiomyopathy, dilated, 1NN
Cardiomyopathy, dilated, 2b
CARDIOMYOPATHY, DILATED, 2C
Cardiomyopathy dilated adult-o...
Cardiomyopathy dilated and hea...
Cardiomyopathy dilated & cardi...
Cardiomyopathy dilated non-com...
Cardiomyopathy dilated type 1A
Cardiomyopathy dilated with co...
Cardiomyopathy dilated with se...
Cardiomyopathy, dilated, with ...
Cardiomyopathy & distal myopat...
Cardiomyopathy, familial hyper...
Cardiomyopathy, familial restr...
Cardiomyopathy hypertrophic
Cardiomyopathy hypertrophic an...
Cardiomyopathy hypertrophic & ...
Cardiomyopathy hypertrophic/di...
Cardiomyopathy hypertrophic/di...
Cardiomyopathy, hypertrophic, ...
Cardiomyopathy hypertrophic mo...
Cardiomyopathy hypertrophic wi...
Cardiomyopathy hypertrophic wi...
Cardiomyopathy hypertropic
Cardiomyopathy left ventricula...
Cardiomyopathy, mitochondrial
Cardiomyopathy mitochondrial a...
Cardiomyopathy non-compaction
Cardiomyopathy non-compaction ...
Cardiomyopathy optic neuropath...
Cardiomyopathy restrictive
Cardiomyopathy restrictive wit...
Cardiomyopathy right ventricul...
Cardiomyopathy right ventricul...
Cardiomyopathy & sudden cardia...
Cardiomyopathy with advanced A...
Cardiomyopathy with alopecia &...
Cardio-respiratory failure
Cardiospondylocarpofacial synd...
Cardiovascular
Cardiovascular autonomic & bra...
Cardiovascular malformation co...
Cardiovascular malformations
Cardiovascular phenotype
Carnevale syndrome
Carney complex
Carney complex, type 1
Carney triad
Carnitine-acylcarnitine carrie...
Carnitine acylcarnitine transl...
Carnitine-acylcarnitine transl...
Carnitine deficiency systemic ...
Carnitine palmitoyl transferas...
Carnitine palmitoyltransferase...
Carnitine palmitoyltransferase...
Carnitine palmitoyltransferase...
Carnitine palmitoyltransferase...
Carnitine palmitoyltransferase...
Carnitine palmitoyltransferase...
Carnitine palmitoyltransferase...
Carnitine palmitoyltransferase...
Carpal tunnel syndrome
Carpal tunnel syndrome, famili...
Carpenter syndrome
Carpenter syndrome 1
Carvajal/Naxos syndrome
Carvajal/Naxos syndrome with l...
Carvajal syndrome
Caspase 8 deficiency
Caspase-8 deficiency
CASQ aggregate myopathy
Castleman disease
Cataract
Cataract 1
Cataract 11
Cataract 12, multiple types
Cataract 13 with adult i pheno...
Cataract 15, multiple types
Cataract 16, multiple types
Cataract 19, multiple types
Cataract 21, multiple types
Cataract 23, multiple types
Cataract 2, Coppock-like
Cataract 30
Cataract 33, multiple types
Cataract 34, multiple types
Cataract 39, multiple types
Cataract 3, multiple types
Cataract 4
Cataract 43
Cataract 44
Cataract 6, multiple types
Cataract aculeiform
Cataract and microcornea
Cataract autosomal dominant
Cataract, autosomal dominant
Cataract autosomal recessive
Cataract, autosomal recessive ...
Cataract, autosomal recessive ...
Cataract autosomal recessive j...
Cataract bilateral congenital
Cataract bilateral congenital ...
Cataract central nuclear
Cataract congenital
Cataract congenital autosomal ...
Cataract congenital & microcor...
Cataract congenital nuclear
Cataract, congenital nuclear, ...
Cataract coppock-like
Cataract, coppock-like
Cataract coralliform
Cataract deafness intellectual...
Cataract full moon with Y-sutu...
Cataract Hutterite type
Cataract Hutterite-type & sudd...
Cataract juvenile
Cataract juvenile autosomal do...
Cataract lamellar
Cataract lamellar pulverulent
Cataract marner
Cataract microcornea and/or ir...
Cataract-microcornea syndrome
Cataract-microcornea with corn...
Cataract, microphthalmia and n...
Cataract & neonatal mitochondr...
Cataract nuclear
Cataract nuclear pulverulent &...
Cataract ocular anterior dysge...
Cataract paediatric
Cataract pediatric
Cataract perinuclear
Cataract polymorphic and lamel...
Cataract posterior polar
Cataract, posterior polar, 3
Cataract progressive cortical ...
Cataract progressive juvenile ...
Cataract progressive membranou...
Cataract pulverulent sutural
Cataract recessive pediatric
Cataracts
Cataract secondary glaucoma
Cataract syndromic
Cataract total white
Cataract with nystagmus
Cataract with protein crystall...
Cataract zonular nuclear pulve...
Cataract zonular pulverulent
Cataract zonular punctate
Catecholaminergic polymorphic ...
Catecholaminergic polymorphic ...
Catel Manzke syndrome
Catel-Manzke syndrome
Cathepsin D deficiency
Caused by mutation in the tran...
Caused by mutation in the zinc...
Caveolinopathy
Cavernous Sinus Meningioma
Cavitating leukoencephalopathy...
cblC deficiency
CCS deficiency
CD25 deficiency
CD27 deficiency
CD36 deficiency
CD40 deficiency
CD40L deficiency
CD4 lymphopaenia idiopathic
CD4+ T lymphopaenia
CD55 deficiency protein-losing...
CD59 deficiency
CD59-mediated hemolytic anemia...
CD8 deficiency
Cd8 deficiency, familial
CD99 Positive Neoplastic Cells...
CDKL5 disorder
CDKL5 disorder without epileps...
Cenani-Lenz syndrome
Central areolar choroidal dyst...
Central centrifual cicatricial...
Central centrifugal cicatricia...
Central core disease
Central core disease, autosoma...
Central core disease RYR1-rela...
Central discoid corneal dystro...
Central hypothyroidism
Central hypothyroidism & heari...
Central hypothyroidism & testi...
Central hypoventilation syndro...
Central hypoventilation syndro...
Central nervous system dysfunc...
Central precocious puberty
Central precocious puberty idi...
Centromeric instability of chr...
Centronuclear myopathy
Centronuclear Myopathy, Domina...
Centronuclear myopathy late-on...
Centronuclear myopathy neonata...
Centronuclear myopathy RYR1-re...
Centronuclear myopathy with ca...
Cephalocele
Cerebellar ataxia
Cerebellar ataxia 2
Cerebellar ataxia 3
Cerebellar ataxia adult-onset
Cerebellar ataxia adult-onset ...
Cerebellar ataxia and atrophy
Cerebellar ataxia and demyelin...
Cerebellar ataxia and developm...
Cerebellar ataxia and quadrupe...
Cerebellar ataxia, areflexia, ...
Cerebellar ataxia autosomal re...
Cerebellar ataxia Cayman type
Cerebellar ataxia, Cayman type
Cerebellar ataxia, deafness, a...
Cerebellar ataxia deafness & n...
Cerebellar ataxia infantile wi...
Cerebellar ataxia late-onset w...
Cerebellar ataxia & limb spast...
Cerebellar ataxia mental retar...
Cerebellar ataxia, mental reta...
Cerebellar ataxia, mental reta...
Cerebellar ataxia, mental reta...
Cerebellar ataxia mental retar...
Cerebellar ataxia mental retar...
Cerebellar ataxia (metabolic p...
Cerebellar ataxia, neuropathy,...
Cerebellar ataxia non-progress...
Cerebellar ataxia with epileps...
Cerebellar ataxia with muscle ...
Cerebellar ataxia with neuropa...
Cerebellar ataxia with spastic...
Cerebellar ataxia X-linked
Cerebellar atrophy
Cerebellar atrophy infantile-o...
Cerebellar atrophy with pigmen...
CEREBELLAR ATROPHY WITH SEIZUR...
Cerebellar atrophy with spinal...
Cerebellar cysts white matter ...
Cerebellar dysplasia
Cerebellar-facial-dental syndr...
Cerebellar hemangioblastoma
Cerebellar hypoplasia and quad...
Cerebellar hypoplasia with end...
CEREBELLAR, OCULAR, CRANIOFACI...
Cerebellar-retinal degeneratio...
Cerebellar syndrome early onse...
Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia D...
Cerebello-cerebral atrophy pro...
Cerebellofaciodental syndrome
Cerebral abnormalities
Cerebral amyloid angiopathy
Cerebral amyloid angiopathy, A...
Cerebral arteriopathy, autosom...
Cerebral arteriovenous malform...
Cerebral atrophy
Cerebral atrophy autosomal rec...
Cerebral autosomal dominant ar...
Cerebral autosomal recessive a...
Cerebral cavernous malformatio...
Cerebral cavernous malformatio...
Cerebral cavernous malformatio...
Cerebral cavernous malformatio...
Cerebral & cerebellar atrophy
Cerebral cortical malformation...
Cerebral creatine deficiency s...
Cerebral creatine deficiency X...
Cerebral dysgenesis, neuropath...
Cerebral folate deficiency
Cerebral folate transport defi...
Cerebral haemorrhage
Cerebral large-artery atherosc...
Cerebral palsy
Cerebral palsy ataxic
Cerebral palsy spastic quadrip...
Cerebral palsy, spastic quadri...
Cerebral palsy, spastic quadri...
Cerebral palsy spastic symmetr...
Cerebral palsy spastic tetrapl...
Cerebral small vessel disease
Cerebral small vessel disease ...
Cerebral visual impairment and...
Cerebro-oculo-facio-skeletal s...
Cerebrooculofacioskeletal synd...
Cerebrooculofacioskeletal synd...
Cerebrooculofacioskeletal synd...
Cerebroretinal microangiopathy...
Cerebroretinal microangiopathy...
Cerebroretinal microangiopathy...
Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis...
Cerebrovascular disease
Ceroid lipofuscinosis neuronal...
Ceroid lipofuscinosis neuronal...
Ceroid lipofuscinosis, neurona...
Ceroid lipofuscinosis, neurona...
Ceroid lipofuscinosis neuronal...
Ceroid lipofuscinosis, neurona...
Ceroid lipofuscinosis neuronal...
Ceroid lipofuscinosis neuronal...
Ceroid lipofuscinosis neuronal...
Cerulean cataract
Cervical artery dissection
Cervical artery dissection spo...
Cervical dystonia
Cervical dystonia primary
Cervical squamous cell carcino...
CFEOM1 & Marcus Gunn jaw-winki...
CFTR-related disorder
Chanarin-Dorfman syndrome
CHAND syndrome
Channelopathy
Characteristic facial morpholo...
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease 4
Charcot-Marie-Tooth disease an...
Charcot-Marie-Tooth disease an...
Charcot-Marie-Tooth disease au...
Charcot-Marie-Tooth disease au...
Charcot-Marie-Tooth disease ax...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease ax...
Charcot-Marie-Tooth disease, a...
CHARCOT-MARIE-TOOTH DISEASE, A...
CHARCOT-MARIE-TOOTH DISEASE, A...
Charcot-Marie-Tooth disease ax...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease, a...
Charcot-Marie-Tooth disease de...
Charcot-Marie-Tooth disease, d...
Charcot-Marie-Tooth disease, d...
CHARCOT-MARIE-TOOTH DISEASE, D...
Charcot-Marie-Tooth disease do...
Charcot-Marie-Tooth disease do...
Charcot-Marie-Tooth disease, d...
Charcot-Marie-Tooth disease, d...
Charcot-Marie-Tooth disease, d...
Charcot-Marie-Tooth disease, d...
Charcot-Marie-Tooth disease ea...
Charcot-Marie-Tooth disease he...
Charcot-Marie-Tooth disease in...
Charcot-Marie-Tooth disease & ...
Charcot-Marie-Tooth disease, r...
Charcot-Marie-Tooth disease, r...
Charcot-Marie-Tooth disease, r...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease ty...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease, t...
Charcot-Marie-Tooth disease wi...
Charcot-Marie-Tooth disease wi...
Charcot-Marie-Tooth disease wi...
Charcot-Marie-Tooth disease wi...
Charcot-Marie-Tooth disease, X...
Charcot-Marie-Tooth disease, X...
Charcot-Marie-Tooth disease X-...
Charcot-Marie-Tooth disease X-...
Charcot-Marie-Tooth, Intermedi...
Charcot-Marie-Tooth Neuropathy...
Charcot-Marie-Tooth with Vocal...
Charcot-Marie-Tooth, X-linked
CHARGE association
CHARGE syndrome
Chediak-Higashi syndrome
Chédiak-Higashi syndrome
Cherubism
Chilblain Lupus
Chilblain lupus familial
Childhood absence epilepsy
Childhood absence epilepsy/Epi...
Childhood apraxia of speech
Childhood ataxia with central ...
Childhood cancer syndrome
Childhood encephalopathy progr...
Childhood hepatocellular carci...
Childhood-onset autosomal rece...
Childhood onset epilepsy focal
Childhood onset epilepsy myocl...
Childhood onset epilepsy syndr...
Childhood onset epilepsy with ...
Childhood-Onset Schizophrenia
Child syndrome
CHILD syndrome
Chitayat syndrome
Chitotriosidase deficiency
Cholangiocarcinoma
Cholangiopathy
Cholangitis
Cholelithiasis
Cholestanol storage disease
Cholestasis
Cholestasis anicteric
Cholestasis, benign recurrent ...
Cholestasis congenital diarrhe...
Cholestasis drug-induced
Cholestasis high gamma-glutamy...
Cholestasis intrahepatic
Cholestasis of pregnancy
Cholestatic liver disease
Cholestatic liver disease in c...
Cholestatic liver disease in i...
Cholestatis
Cholesterol ester storage dise...
Cholesterol ester transfer pro...
Cholesterol monooxygenase (sid...
Cholinesterasaemia
Chondrocalcinosis
Chondrocalcinosis 2
Chondrodysplasia
Chondrodysplasia & abnormal jo...
Chondrodysplasia Blomstrand ty...
Chondrodysplasia CHST3-related
Chondrodysplasia du Pan type
Chondrodysplasia Grebe type
Chondrodysplasia punctata
Chondrodysplasia punctata 1, X...
Chondrodysplasia punctata 2 X-...
Chondrodysplasia punctata X-li...
Chondrodysplasia with joint di...
Chondrodysplasia with platyspo...
Chondroectodermal dysplasia
Chondrosarcoma
Chops syndrome
Chordoma
Chorea
Chorea developmental delay and...
Chorea early onset
Chorea psychosis acanthocytosi...
Choreoathetosis
Choreoathetosis, hypothyroidis...
Choreoathetosis progressive
Chorioretinal atrophy
Chorioretinal degeneration wit...
Choroidal dystrophy, central a...
Choroideraemia
Choroideremia
Choroid plexus carcinoma
Choroid plexus carcinoma child...
Christianson syndrome
CHRNA1-Related Congenital Myas...
Chromosome 17, trisomy 17p11 2
Chromosome 2q32-q33 deletion s...
Chronic active Epstein-Barr vi...
Chronic adenoiditis
Chronic atrial and intestinal ...
Chronic atrial & intestinal dy...
Chronic bleeding disorder
Chronic granulomatous disease
Chronic granulomatous disease ...
Chronic granulomatous disease ...
Chronic granulomatous disease,...
Chronic granulomatous disease,...
Chronic granulomatous disease ...
Chronic granulomatous disease,...
Chronic infantile neurological...
Chronic intestinal pseudo-obst...
Chronic intestinal pseudoobstr...
Chronic kidney disease
Chronic kidney disease autosom...
Chronic kidney failure
Chronic lymphocytic leukaemia
Chronic lymphocytic leukemia
Chronic mucocutaneous candidia...
Chronic multifocal osteomyelit...
Chronic myelogenous leukemia
Chronic myelomonocytic / acute...
Chronic neutrophilia
Chronic neutrophilic leukaemia
Chronic non-paroxysmal neuropa...
Chronic obstructive pulmonary ...
Chronic pancreatitis early ons...
Chronic progressive multiple s...
Chronic pulmonary disease
Chronic respiratory insufficie...
Chronic rhinosinusitis and pri...
Chudley-McCullough syndrome
Chylomicronaemia
Chylomicron retention disease
Ciliary dyskinesia, primary, 1...
Ciliary dyskinesia, primary, 1...
Ciliary dyskinesia, primary, 1...
Ciliary dyskinesia, primary, 2...
Ciliary dyskinesia, primary, 2...
Ciliary dyskinesia, primary, 2...
Ciliary dyskinesia, primary, 3
Ciliary dyskinesia, primary, 3...
Ciliary dyskinesia, primary, 3...
Ciliary dyskinesia, primary, 3...
Ciliary dyskinesia, primary, 3...
Ciliary dyskinesia, primary, 3...
Ciliary dyskinesia, primary, 3...
CILIARY DYSKINESIA, PRIMARY, 3...
CILIARY DYSKINESIA, PRIMARY, 4...
Ciliary dyskinesia, primary, 6
Ciliary dyskinesia, primary, 7
Ciliopathy
CINCA syndrome
Circumferential skin creases K...
Cirrhosis
Citrin deficiency
Citrullinaemia
Citrullinaemia adult onset typ...
Citrullinemia, mild
Citrullinemia type I
Citrullinemia type II
CK syndrome
Classic congenital adrenal hyp...
CLCN4-related disorder
Clear cell carcinoma of kidney
Cleft lip
Cleft lip and/or palate non-sy...
Cleft lip and palate
Cleft lip and palate non-syndr...
Cleft lip and palate with enam...
Cleft lip non-syndromic
Cleft lip / palate
Cleft lip/palate
Cleft lip with or without clef...
Cleft lip with or without clef...
Cleft palate
Cleft palate and ankyloglossia
Cleft palate and mental retard...
Cleft palate, cardiac defects,...
Cleft palate hypohidrosis and ...
Cleft palate non-syndromic
Cleft palate, psychomotor reta...
Cleft palate with ankyloglossi...
Cleft palate with no lip pits
Cleft palate X-linked
Cleft upper lip
Cleidocranial dysostosis
Cleidocranial dysplasia
Clinodactyly of the 5th finger
Clitoromegaly
Clouston syndrome
CLOVES syndrome
CLPB deficiency severe
Clubfoot
Clumped pigmentary retinal deg...
CMV infection
COACH syndrome
Coagulation factor deficiency ...
Coarctation of the aorta
Coarse face dysostosis respira...
Coarse facial features
Coarse facies & skin broad han...
Coats plus
Coats plus & dextrocardia
Coats plus syndrome with telom...
Cobalamin deficiency
Cobblestone-like cortical malf...
Cobblestone lissencephaly
Cochlear nerve aplasia CNS hyp...
Cockayne syndrome
Cockayne syndrome B
Cockayne syndrome type A
CODAS syndrome
Coenzyme Q10 deficiency
Coenzyme Q10 deficiency, prima...
Coenzyme Q10 deficiency, prima...
Coenzyme Q10 deficiency, prima...
Coenzyme Q10 deficiency, prima...
Coenzyme Q10 deficiency primar...
Coenzyme Q10 deficiency, prima...
Coenzyme Q10 deficiency, prima...
Coenzyme Q10 deficiency, prima...
Coenzyme Q10 deficiency, prima...
Co-enzyme Q deficiency
Co-enzyme Q deficiency with ce...
Coffin-Lowry syndrome
Coffin Siris/Intellectual Disa...
Coffin-Siris syndrome
Coffin-Siris syndrome 1
COFFIN-SIRIS SYNDROME 10
Coffin-Siris syndrome 4
Coffin-Siris syndrome 5
COFFIN-SIRIS SYNDROME 7
Coffin-Siris syndrome & cardia...
COG1 congenital disorder of gl...
COG7 congenital disorder of gl...
Cognitive impairment
Cognitive impairment & autism ...
Cognitive impairment behaviour...
Cognitive impairment & coarse ...
Cognitive impairment short sta...
Cohen-Gibson syndrome
Cohesinopathy
Colchicine resistance
Cold-induced sweating syndrome
Cold Induced Sweating Syndrome
Cold-induced sweating syndrome...
Cold-induced sweating syndrome...
Cole-Carpenter syndrome
Cole-Carpenter syndrome 1
Cole-Carpenter syndrome 2
Collagen IV nephropathy
Collagenopathy type II
Collagenopathy type I with sev...
Collagen VI deficiency
Collagen VI myopathy
Collagen VI-related myopathy
Collapse (finding)
Collapsing glomerulosclerosis
Collodion membrane
Collodion membrane self-healin...
Collodion self-healing
Coloboma
Coloboma and retinoschisis
Coloboma, Congenital Heart Dis...
Coloboma of optic disc
Colobomas heart defects ichthy...
Colon cancer
Colon cancer breast cancer leu...
Colon Carcinoma
Colonic ganglioneuromatous pol...
Colon polyps
Colorectal adenoma
Colorectal adenoma/carcinoma
Colorectal cancer
Colorectal cancer 1
Colorectal cancer 10
Colorectal cancer early onset
Colorectal cancer early-onset
Colorectal cancer non-polyposi...
Colorectal cancer, non-polypos...
Colorectal cancer non-polyposi...
Colorectal cancer predispositi...
Colorectal cancer susceptibili...
Colorectal cancer, susceptibil...
Colorectal cancer, susceptibil...
Colorectal / endometrial cance...
Colorectal polyposis
Colour-blindness total
COLTON-NULL PHENOTYPE
Combined alpha-delta platlet s...
Combined cellular and humoral ...
Combined d-2- and l-2-hydroxyg...
Combined deficiency of factor ...
Combined deficiency of sialida...
Combined hyperlipidemia famili...
Combined immune deficiency wit...
Combined immunodeficiency
COMBINED IMMUNODEFICIENCY AND ...
Combined immunodeficiency earl...
Combined immunodeficiency with...
Combined immunodeficiency, X-l...
Combined malonic and methylmal...
Combined mineralocorticoid and...
Combined molybdoflavoprotein e...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
COMBINED OXIDATIVE PHOSPHORYLA...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined oxidative phosphoryla...
Combined partial 17-alpha-hydr...
Combined pituitary hormone def...
Combined pituitary hormone def...
Combined Pituitary Hormone Def...
Combined Pituitary Hormone Def...
Common arterial trunk
Common Variable Immune Deficie...
Common Variable Immune Deficie...
Common variable immunodeficien...
Common variable immunodeficien...
Common variable immunodeficien...
Common variable immunodeficien...
Common variable immunodeficien...
Common variable immunodeficien...
Common variable immunodeficien...
Common variable immunodeficien...
Common variable immunodeficien...
Common variable immunodeficien...
Complement C1S abnormality
Complement C2 deficiency
Complement C3 deficiency
Complement C4b deficiency
Complement C5 deficiency
Complement C6 deficiency
Complement C7 deficiency
Complement C9 deficiency
Complement component 4, partia...
Complement component 7 deficie...
Complement component 8 deficie...
Complement component 9 deficie...
Complement component c1s defic...
Complement factor d deficiency
Complement factor I deficiency
Complete combined 17-alpha-hyd...
Complex 1 and II deficiency
Complex 1 deficiency
Complex 3 deficiency
Complex 4 deficiency
Complex digit malformations
Complex febrile seizures
Complex I deficiency
Complex II deficiency
Complex III defective mitochon...
Complex III deficiency
Complex II/III deficiency
Complex V deficiency
Complicated spastic paraplegia...
Conduction disorder of the hea...
Conduction system disease atri...
Conduction system disease & ju...
Cone/cone-rod dystrophy
Cone/cone-rod dystrophy with r...
Cone dysfunction
Cone dysfunction syndrome
Cone dysfunction syndrome and ...
Cone dystrophy
Cone dystrophy 3
Cone dystrophy 4
Cone dystrophy autosomal domin...
Cone dystrophy autosomal reces...
Cone dystrophy early-onset
Cone dystrophy with supernorma...
Cone monochromatism
Cone-rod degeneration
Cone-rod degeneration autosoma...
Cone rod dystrophy
Cone-rod dystrophy
Cone-rod dystrophy 10
Cone-rod dystrophy 11
Cone-rod dystrophy 13
Cone-rod dystrophy 15
Cone-rod dystrophy 16
Cone-rod dystrophy 18
Cone-rod dystrophy 19
Cone-rod dystrophy 2
Cone-rod dystrophy 20
Cone-rod dystrophy 3
Cone-rod dystrophy 6
Cone-rod dystrophy amelogenesi...
Cone-rod dystrophy and hearing...
Cone-rod dystrophy autosomal r...
Cone-Rod Dystrophy, Dominant
Cone-rod dystrophy early-onset
Cone-rod dystrophy early-onset...
Cone-Rod Dystrophy, Recessive
Cone-rod dystrophy & retinal t...
Cone-rod dystrophy with amelog...
Cone-rod dystrophy with sensor...
Cone-rod dystrophy X-linked
Cone-rod myopathy
Congenital absence of salivary...
Congenital absence of vas defe...
Congenital adrenal hyperplasia
Congenital adrenal hypoplasia,...
Congenital Adrenal Insufficien...
Congenital amegakaryocytic thr...
Congenital aniridia
Congenital anomalies developme...
Congenital anomalies of kidney...
Congenital anomalies of kidney...
CONGENITAL ANOMALIES OF KIDNEY...
Congenital anomalies of the ki...
Congenital anomalies of the ki...
Congenital anomalies of the ki...
Congenital anomalies of the ki...
Congenital anomalies of the ki...
Congenital bilateral absence o...
Congenital Bile Acid Synthesis...
Congenital bile acid synthesis...
Congenital cataract
Congenital cataract and microp...
Congenital cataract autosomal ...
Congenital cataract Coppock-li...
Congenital cataract & microcor...
Congenital cataracts
Congenital cataracts hearing l...
Congenital cataracts, hearing ...
Congenital cataract with micro...
Congenital cataract with ocul...
Congenital central hypoventila...
Congenital cerebellar hypoplas...
Congenital deafness
Congenital diaphragmatic herni...
Congenital disorder of deglyco...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
CONGENITAL DISORDER OF GLYCOSY...
Congenital disorder of glycosy...
CONGENITAL DISORDER OF GLYCOSY...
CONGENITAL DISORDER OF GLYCOSY...
CONGENITAL DISORDER OF GLYCOSY...
CONGENITAL DISORDER OF GLYCOSY...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital disorder of glycosy...
Congenital dyserythropoietic a...
Congenital dyserythropoietic a...
Congenital dyserythropoietic a...
Congenital dyserythropoietic a...
Congenital dyserythropoietic a...
Congenital dysorythropoietic a...
Congenital erythropoietic porp...
Congenital fibre type dispropo...
Congenital fibrosis of the ext...
Congenital fibrosis of the ext...
Congenital fibrosis of the ext...
Congenital fibrosis of the ext...
Congenital fibrosis of the ext...
Congenital fibrosis of the ext...
Congenital generalized lipodys...
Congenital generalized lipodys...
Congenital generalized lipodys...
Congenital glaucoma
Congenital glaucoma in Hajdu-C...
Congenital glucose-galactose m...
Congenital heart defect
Congenital heart defect in Dow...
Congenital heart defects
Congenital heart defects and e...
Congenital heart defects and i...
Congenital heart defects, dysm...
Congenital heart defects & gen...
Congenital heart defects, mult...
Congenital heart defects, mult...
CONGENITAL HEART DEFECTS, MULT...
Congenital heart defects syndr...
Congenital heart disease
Congenital heart disease & car...
Congenital heart disease devel...
Congenital heart disease devel...
Congenital heart disease devel...
Congenital heart disease devel...
Congenital heart disease non-s...
Congenital heart disease skele...
Congenital hemolytic anemia
Congenital hydrocephalus
Congenital hyperammonemia, typ...
Congenital hypomyelinating neu...
Congenital hypomyelinating neu...
Congenital hypomyelinating neu...
Congenital hypomyelinating neu...
Congenital hypothyroidism
Congenital hypothyroidism thyr...
Congenital hypothyroidism with...
Congenital ichthyosiform eryth...
Congenital ichthyosis of skin
Congenital indifference to pai...
Congenital Indifference to Pai...
Congenital indifference to pai...
Congenital insensitivity to pa...
Congenital lactase deficiency
Congenital lipoid adrenal hype...
Congenital lipoid adrenal hype...
Congenital long QT syndrome
Congenital microcephaly
Congenital microvillous atroph...
Congenital motor nystagmus
Congenital muscular atrophy wi...
Congenital muscular dystrophy
Congenital Muscular Dystrophy,...
Congenital Muscular Dystrophy,...
Congenital muscular dystrophy-...
Congenital muscular dystrophy-...
Congenital muscular dystrophy-...
Congenital muscular dystrophy-...
Congenital muscular dystrophy-...
Congenital muscular dystrophy-...
Congenital muscular dystrophy-...
Congenital muscular dystrophy-...
Congenital muscular dystrophy-...
Congenital muscular dystrophy-...
Congenital Muscular Dystrophy,...
Congenital Muscular Dystrophy,...
Congenital muscular dystrophy,...
Congenital muscular dystrophy ...
Congenital muscular hypertroph...
Congenital myasthenia
Congenital myasthenic syndrome
Congenital myasthenic syndrome...
Congenital myasthenic syndrome...
Congenital myasthenic syndrome...
Congenital myasthenic syndrome...
Congenital Myasthenic Syndrome...
Congenital myasthenic syndrome...
Congenital myasthenic syndrome...
Congenital Myasthenic Syndrome...
Congenital myasthenic syndrome...
Congenital myasthenic syndrome...
Congenital myasthenic syndrome...
Congenital myasthenic syndrome...
Congenital myopathy
Congenital myopathy mild
Congenital myopathy with centr...
Congenital myopathy with exces...
Congenital myopathy with fiber...
Congenital myopathy with fibre...
Congenital myotonia, autosomal...
Congenital myotonia, autosomal...
Congenital nephrotic syndrome ...
Congenital nuclear cataract
Congenital ocular coloboma
Congenital primary aphakia
Congenital retinal detachment ...
Congenital secretory diarrhea,...
Congenital sensorineural heari...
Congenital sensory neuropathy ...
Congenital short-bowel syndrom...
Congenital stationary night bl...
Congenital stationary night bl...
Congenital stationary night bl...
Congenital stationary night bl...
Congenital Stationary Night Bl...
Congenital Stationary Night Bl...
Congenital stationary night bl...
Congenital stationary night bl...
Congenital stationary night bl...
Congenital stationary night bl...
Congenital stationary night bl...
Congenital Stromal Corneal Dys...
Congenital stromal dystrophy
Congenital tufting enteropathy
Congestive heart failure
Connective tissue disease auto...
Connective tissue disorder
Connective tissue weakness
Conotruncal anomaly face syndr...
Conotruncal anomaly face syndr...
Conotruncal heart defects
Conotruncal heart defects with...
Conotruncal heart defects with...
Conotruncal heart malformation...
Conradi-Hunermann-Happle syndr...
Constitutional delay of growth...
Constitutional mismatch repair...
Contractural syndrome
Contractures, pterygia, and va...
Contracture syndrome type 3
Coproporphyria
Coproporphyria, digenic
Coproporphyria with posterior ...
Coralliform cataract
Core myopathy
Core myopathy dilated cardiomy...
Core/rod disease
Core rod myopathy
Corneal dystrophy
Corneal dystrophy 2
Corneal dystrophy and percepti...
Corneal dystrophy Avellino
Corneal dystrophy combined gra...
Corneal Dystrophy, Dominant
Corneal Dystrophy, Dominant/Re...
Corneal dystrophy epithelial b...
Corneal dystrophy Fuchs endoth...
Corneal dystrophy, Fuchs endot...
Corneal dystrophy Fuchs endoth...
Corneal dystrophy, Fuchs endot...
Corneal dystrophy, Fuchs endot...
Corneal dystrophy Fuchs late-o...
Corneal dystrophy gelatinous d...
Corneal dystrophy granular
Corneal dystrophy granular typ...
Corneal dystrophy lattice inte...
Corneal dystrophy lattice type
Corneal dystrophy lattice type...
Corneal dystrophy lattice type...
Corneal dystrophy lattice type...
Corneal dystrophy map-like
Corneal dystrophy Meesmann
Corneal Dystrophy, Recessive
Corneal dystrophy Reis-Bückler...
Corneal dystrophy Schnyder
Corneal dystrophy Thiel-Behnke
Corneal ectasia primary
Corneal endothelial dystrophy
Corneal endothelial dystrophy ...
Corneal endothelial dystrophy ...
Corneal epithelial dystrophy
Corneal intraepithelial dysker...
Cornea plana
Cornea plana 2
Cornelia de Lange-like syndrom...
Cornelia de Lange / Rett syndr...
Cornelia de Lange syndrome
Cornelia de Lange Syndrome
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 5
Cornelia de Lange syndrome-lik...
Coronal craniosynostosis
Coronal craniosynostosis & int...
Coronary artery disease
Coronary artery disease, autos...
Coronary artery disease early-...
Coronary artery disease normol...
Coronary artery spasm 3, susce...
Coronary heart disease
Corpus callosum agenesis
Corpus callosum local dysplasi...
Corpus callosum, partial agene...
Cortical atrophy and epilepsy
Cortical development malformat...
Cortical dysgenesis hydranence...
Cortical dysplasia
Cortical dysplasia and dysmorp...
Cortical dysplasia complex wit...
Cortical dysplasia, complex, w...
Cortical dysplasia complex wit...
Cortical dysplasia, complex, w...
Cortical dysplasia, complex, w...
Cortical dysplasia, complex, w...
Cortical dysplasia, complex, w...
Cortical dysplasia, complex, w...
Cortical gyral simplification
Cortical malformations, occipi...
Cortical malformations & polym...
Cortical myclonic tremor and e...
Cortical myoclonus
Cortical myoclonus with cerebe...
Cortical pulverulent cataract
Corticobasal degeneration
Corticobasal syndrome
Corticosteroid-binding globuli...
Corticosterone methyl oxidase ...
Corticosterone methyloxidase t...
Corticosterone methyloxidase t...
Cortisone reductase deficiency
Cortisone reductase deficiency...
Cortisone reductase deficiency...
Costello syndrome
Coumarin resistance
Cowchock syndrome
Cowden / Bannayan-Riley-Ruvalc...
Cowden / Cowden-like syndrome
Cowden disease
Cowden-like syndrome
Cowden syndrome
Cowden syndrome 1
Cowden syndrome 5
Cowden syndrome 6
Cowden syndrome 7
Cowden syndrome modifier of
Cowden syndrome & thyroid canc...
Coxa plana
Cramp
Cranial dysinnervation disorde...
Craniocervical dystonia
Craniodiaphyseal dysplasia aut...
Craniodiaphyseal dysplasia, au...
Cranioectodermal dysplasia
Cranioectodermal dysplasia 1
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia and...
Cranioectodermal dysplasia typ...
Craniofacial and anterior segm...
Craniofacial anomalies and ant...
Craniofacial deafness hand syn...
Craniofacial-deafness-hand syn...
Craniofacial malformations, as...
Craniofacial & skeletal abnorm...
Craniofrontonasal dysplasia
Craniofrontonasal syndrome
Cranio-lenticulo-sutural dyspl...
Craniolenticulosutural dysplas...
Craniometaphyseal dysplasia
Craniometaphyseal dysplasia, a...
Craniometaphyseal dysplasia, a...
Cranioosteoarthropathy
Craniopharyngioma
Craniorachischisis
Craniosynostosis
Craniosynostosis 1
Craniosynostosis 2
Craniosynostosis 3
Craniosynostosis 6
Craniosynostosis and apparent ...
Craniosynostosis and dental an...
Craniosynostosis and multiple ...
Craniosynostosis Boston-type
Craniosynostosis complex
Craniosynostosis delayed tooth...
Craniosynostosis & dental anom...
Craniosynostosis hypertelorism...
Craniosynostosis, nonspecific
Craniosynostosis nonsyndromic
Craniosynostosis, nonsyndromic...
Craniosynostosis syndrome
Creatine deficiency
Creatine deficiency, X-linked
Creutzfeldt-Jakob syndrome
Creutzfeldt-Jakob syndrome inc...
Crigler-Najjar syndrome
Crigler-Najjar syndrome 1
Crigler-Najjar syndrome 2
Crigler Najjar syndrome, type ...
Crigler-Najjar syndrome, type ...
Crisponi/CISS1 syndrome
Crisponi/cold-induced sweating...
Crisponi syndrome
Crisponi syndrome/cold-induced...
Crohn's disease
Crohns Disease
Crohn's disease early-onset an...
Crohn's disease neonatal onset
Crohn's disease susceptibility...
Crouzon-like craniosynostosis
Crouzon / Pfeiffer syndrome
Crouzon syndrome
Crouzon syndrome with acanthos...
Cryohydrocytosis
Cryohydrocytosis stomatin-defi...
Cryopyrin associated periodic ...
Cryopyrin-associated periodic ...
Cryptophthalmos syndrome
Cryptorchidism
Cryptozoospermia
C syndrome
CTLA4 haploinsufficiency
Curly hair, ankyloblepharon, n...
Currarino syndrome
Currarino triad
Curry-Hall syndrome
Curry-Jones syndrome
Cushing syndrome
Cutaneomucosal venous malforma...
Cutaneous erythematous nodes u...
Cutaneous leiomyomatosis
Cutaneous malignant melanoma 1
Cutaneous malignant melanoma 2
Cutaneous malignant melanoma 3
Cutaneous malignant melanoma 5
Cutaneous mastocytosis
Cutaneous melanoma
Cutaneous telangiectasia and c...
Cuticular drusen
Cutis laxa
Cutis laxa arachnodactyly & va...
Cutis laxa autosomal dominant
Cutis laxa, autosomal dominant...
Cutis laxa autosomal dominant ...
Cutis laxa autosomal recessive
Cutis laxa autosomal recessive...
Cutis laxa autosomal recessive...
Cutis laxa autosomal recessive...
Cutis laxa autosomal recessive...
Cutis laxa autosomal recessive...
CUTIS LAXA, AUTOSOMAL RECESSIV...
CUTIS LAXA, AUTOSOMAL RECESSIV...
Cutis laxa-corneal clouding-ol...
Cutis laxa fat pads & retinopa...
Cutis laxa, recessive
Cutis laxa syndrome
Cyanosis, transient neonatal
Cyclical neutropenia
Cylindromatosis, familial
Cystathioninuria
Cystic fibrosis
Cystic fibrosis atypical
Cystic fibrosis non-classic
Cystic fibrosis related disord...
Cystic fibrosis with pancreati...
Cystic kidney disease
Cystic leukoencephalopathy
Cystic leukoencephalopathy wit...
Cystic renal disease
Cystic renal dysplasia
Cystinosis
Cystinosis, atypical nephropat...
Cystinosis benign
Cystinosis intermediate
Cystinosis nephropathic
Cystinosis nephropathic infant...
Cystinosis nephropathic juveni...
Cystinosis nephropathic late-o...
Cystinosis non-classical
Cystinuria
Cystinuria non-type I
Cystinuria type B
Cystinuria type I
Cytochrome c oxidase deficienc...
Cytochrome P450 deficiency
Cytosarcoma phyllodes
Cytosolic PEPCK deficiency
Czech dysplasia metatarsal typ...
D-2- and I-2-OH glutaricacidur...
D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 1
D-2-hydroxyglutaric aciduria 2
D-2-hydroxyglutaric aciduria t...
Dandy-Walker like malformation...
Dandy-Walker malformation
Dandy-Walker malformation and ...
Danon disease
Darier disease
Darier disease, acral hemorrha...
Darier disease, segmental
DAVID syndrome
D-bifunctional protein deficie...
D-bifunctional protein deficie...
DBR1 deficiency partial
DEAF1-associated neurodevelopm...
Deafblindness with enamel dysp...
Deafness
Deafness and myopia
Deafness and palmoplantar hype...
Deafness and palmoplantar kera...
Deafness autosomal dominant
Deafness, autosomal dominant 1
Deafness, autosomal dominant 1...
Deafness autosomal dominant 12
Deafness, autosomal dominant 1...
Deafness autosomal dominant 13
Deafness, autosomal dominant 1...
Deafness autosomal dominant 17
Deafness autosomal dominant 2
Deafness, autosomal dominant 2...
Deafness autosomal dominant 22
Deafness, autosomal dominant 2...
Deafness, autosomal dominant 2...
Deafness autosomal dominant 3
Deafness, autosomal dominant 3...
Deafness, autosomal dominant 3...
Deafness, autosomal dominant 4
Deafness, autosomal dominant 4...
Deafness, autosomal dominant 4...
Deafness, autosomal dominant 4...
Deafness, autosomal dominant 4...
Deafness, autosomal dominant 5...
Deafness, autosomal dominant 6...
Deafness, autosomal dominant 6...
Deafness, autosomal dominant 6...
Deafness, autosomal dominant 7...
DEAFNESS, AUTOSOMAL DOMINANT 7...
Deafness autosomal dominant 8
Deafness, autosomal dominant 9
Deafness autosomal recessive
Deafness, autosomal recessive
Deafness autosomal recessive 1
DEAFNESS, AUTOSOMAL RECESSIVE ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
DEAFNESS, AUTOSOMAL RECESSIVE ...
DEAFNESS, AUTOSOMAL RECESSIVE ...
DEAFNESS, AUTOSOMAL RECESSIVE ...
DEAFNESS, AUTOSOMAL RECESSIVE ...
DEAFNESS, AUTOSOMAL RECESSIVE ...
DEAFNESS, AUTOSOMAL RECESSIVE ...
Deafness, autosomal recessive ...
Deafness autosomal recessive 1...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
Deafness, autosomal recessive ...
DEAFNESS, AUTOSOMAL RECESSIVE ...
Deafness, autosomal recessive ...
Deafness bilateral with inner ...
Deafness childhood onset
Deafness childhood severe
Deafness, congenital heart def...
Deafness congenital mild
Deafness congenital severe
Deafness developmental regress...
Deafness, digenic, GJB2/GJB3
Deafness dominant progressive
Deafness-dystonia syndrome
Deafness enamel hypoplasia nai...
Deafness non-syndromic
Deafness nonsyndromic
Deafness non-syndromic autosom...
Deafness non-syndromic autosom...
Deafness nonsyndromic sensorin...
Deafness nonsyndromic sensorin...
Deafness onychodystrophy osteo...
Deafness progressive
Deafness progressive partial
Deafness sensorineural non-syn...
Deafness tubulopathy growth re...
Deafness visual impairment & d...
Deafness with labyrinthine apl...
Deafness, without vestibular i...
Deafness, X-linked 1
Deafness, X-linked 2
Deafness, X-linked 5
Deafness, X-linked 6
Deafness, Y-linked 2
De Barsy syndrome
Debrisoquine, poor metabolism ...
Decapitated and decaudated spe...
Decreased activity of mitochon...
Decreased activity of the pyru...
Decreased antibody level in bl...
Decreased lipopolysaccharide-i...
Decreased nerve conduction vel...
Deep dermatophytosis
Deep vein thrombosis
Deep venous thrombosis
Deep venous thrombosis, protec...
Defective collagen binding
Defective craniofacial morphog...
Defective spermatogenesis
Deficiency of 2-methylbutyryl-...
Deficiency of 3-hydroxyacyl-Co...
Deficiency of acetyl-CoA acety...
Deficiency of alpha-mannosidas...
Deficiency of aromatic-L-amino...
Deficiency of beta-ureidopropi...
Deficiency of bisphosphoglycer...
Deficiency of butyrylcholine e...
Deficiency of butyryl-CoA dehy...
Deficiency of carnitine acetyl...
Deficiency of ferroxidase
Deficiency of galactokinase
Deficiency of glycerate kinase
Deficiency of glycerol kinase
Deficiency of guanidinoacetate...
Deficiency of hyaluronoglucosa...
Deficiency of hydroxymethylglu...
Deficiency of iodide peroxidas...
Deficiency of isobutyryl-CoA d...
Deficiency of malonyl-CoA deca...
Deficiency of phosphoserine ph...
Deficiency of pyrroline-5-carb...
Deficiency of ribose-5-phospha...
Deficiency of steroid 11-beta-...
Deficiency of steroid 17-alpha...
Deficiency of transaldolase
Deficiency of UDPglucose-hexos...
Deficiency of xanthine oxidase
Dehydrated hereditary stomatoc...
Dejerine-Sottas disease
Dejerine-sottas neuropathy, au...
Dejerine-Sottas syndrome
Dejerine-Sottas syndrome, auto...
Delayed gross motor developmen...
Delayed motor milestones pes c...
Delayed myelination with mitoc...
Delayed puberty
Delayed puberty self-limited
Delayed speech
Delayed speech and language de...
Delta-sarcoglycanopathy
Delta storage pool deficiency
Delta thalassaemia
delta Thalassemia
Dementia
Dementia and/or parkinsonism
Dementia, Deafness, and Sensor...
Dementia familial
Dementia late-onset
Dementia neurodegenerative
Dementia pyramidal system invo...
Dementia with Lewy bodies
Dementia with lysosomal inclus...
Demyelinating neuropathy
Demyelinating peripheral neuro...
Demyelinating polyneuropathy
Dendritic cell, monocyte, B ly...
Dendritic cell monocyte B & NK...
DEND syndrome
DEND syndrome intermediate
Dense deposit disease
Dense granule secretion defici...
Dental anomalies
Dental anomalies isolated
Dent disease
Dent disease 1
Dent disease 2
Dent disease/Nephrolithiasis t...
Dentin dysplasia type 1
Dentinogenesis imperfecta
Dent (Japan) disease
Denys-Drash syndrome
Denys-Drash syndrome incomplet...
Depression ataxia and cardiomy...
Depressivity
Dermatofibrosarcoma protuberan...
Dermatofibrosis lenticularis d...
Desbuquois dysplasia
Desbuquois dysplasia 1
Desbuquois dysplasia 2
Desbuquois dysplasia/diastroph...
Desbuquois dysplasia Kim varia...
Desbuquois dysplasia type 1
Desbuquois dysplasia type 2
Desbuquois syndrome
Desmoglein-1 deficiency with e...
Desmosterolosis
Developmental and epileptic en...
Developmental delay
Developmental delay absent spe...
Developmental delay accelerate...
Developmental delay and ataxia
Developmental delay and autist...
Developmental delay and epilep...
Developmental delay and macroc...
Developmental delay and myoclo...
Developmental delay and neurol...
Developmental delay and/or epi...
Developmental delay and progre...
DEVELOPMENTAL DELAY AND SEIZUR...
Developmental delay ataxia cra...
Developmental delay & behaviou...
Developmental delay cerebellar...
Developmental delay coarse fac...
Developmental delay cognitive ...
Developmental delay & congenit...
Developmental delay dysmorphia...
Developmental delay dystonia a...
Developmental delay dystonia d...
Developmental delay epilepsy &...
Developmental delay epilepsy &...
Developmental delay epilepsy &...
Developmental delay epilepsy &...
Developmental delay facial dys...
Developmental delay failure to...
Developmental delay failure to...
Developmental delay failure to...
Developmental delay febrile se...
Developmental delay growth ret...
Developmental delay hearing lo...
Developmental delay & hypertro...
Developmental delay hypotonia ...
Developmental delay hypotonia ...
Developmental delay hypotonia ...
Developmental delay hypotonia ...
Developmental delay hypotonia ...
Developmental delay & intellec...
Developmental delay intellectu...
Developmental delay intellectu...
Developmental delay/intellectu...
Developmental delay intellectu...
Developmental delay/intellectu...
Developmental delay/intellectu...
Developmental delay & lactic a...
Developmental delay lung cysts...
Developmental delay macrocepha...
Developmental delay & microcep...
Developmental delay microcepha...
Developmental delay microcepha...
Developmental delay microcepha...
Developmental delay microcepha...
Developmental delay microcepha...
Developmental delay microcepha...
Developmental delay microcepha...
Developmental delay midface hy...
Developmental delay & movement...
Developmental delay muscular h...
Developmental delay & myopathi...
Developmental delay non-syndro...
Developmental delay poor growt...
Developmental delay & seizures
Developmental delay seizures c...
Developmental delay seizures d...
Developmental delay seizures e...
Developmental delay seizures &...
Developmental delay short stat...
Developmental delay & skeletal...
Developmental delay spasticity...
Developmental delay with seizu...
Developmental delay with sever...
Developmental delay with short...
Developmental disability micro...
Developmental disorder
Developmental disorder autism ...
Developmental encephalopathy
Developmental & epileptic ence...
Developmental epileptic enceph...
Developmental & language delay...
Developmental malformations se...
Developmental regression
Developmental regression recur...
Developmental Split Brain Synd...
Developmental verbal dyspraxia
Development delay and hypotoni...
Development delay hypotonia at...
Development delay intellectual...
Development delay intellectual...
Development delay with movemen...
Development delay with seizure...
Dextrocardia
Dextrocardia and situs disturb...
DFNA 2 Nonsyndromic Hearing Lo...
DFNB66 deafness
DFNB97 hearing loss
D-glyceric aciduria
D-Glyceric aciduria
Diabetes
Diabetes adult-onset
Diabetes and bone marrow failu...
Diabetes early-onset
Diabetes early-onset MODY
Diabetes gestational
Diabetes in pregnancy
Diabetes insipidus central
Diabetes insipidus nephrogenic
Diabetes insipidus, nephrogeni...
Diabetes insipidus, nephrogeni...
Diabetes insipidus nephrogenic...
Diabetes insipidus neurohypoph...
Diabetes insipidus, neurohypop...
Diabetes insipidus neurohypoph...
Diabetes insipidus partial nep...
Diabetes juvenile-onset
Diabetes mellitus
Diabetes mellitus, insulin-dep...
Diabetes mellitus neonatal
Diabetes mellitus, neonatal, w...
Diabetes mellitus neonatal wit...
Diabetes mellitus, permanent n...
Diabetes mellitus, permanent n...
Diabetes mellitus post transpl...
Diabetes mellitus transient ne...
Diabetes mellitus type 1
Diabetes mellitus type 2
Diabetes mellitus type 2 & ges...
Diabetes mellitus with reactiv...
Diabetes MODY
Diabetes MODY1
Diabetes MODY2
Diabetes MODY3
Diabetes MODY4
Diabetes MODY6
Diabetes neonatal
Diabetes neonatal/adult-onset
Diabetes neonatal with neurolo...
Diabetes NIDDM
Diabetes permanent neonatal
Diabetes permanent neonatal & ...
Diabetes transient neonatal
Diabetes type 1
Diabetes type 1B
Diabetes type 2
Diabetes type 2 early-onset
Diabetes type 2 early-onset au...
Diabetes type 2 increased risk
Diamond-Blackfan anaemia
Diamond-Blackfan anaemia with ...
Diamond-Blackfan anemia
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 15 wit...
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 8
DIAMOND-BLACKFAN ANEMIA-LIKE
Diaphragmatic hernia & cardiov...
Diaphragmatic hernia congenita...
Diaphyseal dysplasia
Diaphyseal medullary stenosis ...
DIARRHEA 10, PROTEIN-LOSING EN...
Diarrhea 3, secretory sodium, ...
Diarrhea 4, malabsorptive, con...
Diarrhea 5, with tufting enter...
Diarrhea 6
Diarrhea 8, secretory sodium, ...
Diarrhea with Microvillus Atro...
Diarrhoea 4 malabsorptive cong...
Diarrhoea congenital chloride
Diarrhoea refractory
Diarrhoea syndrome familial
Diastolic dysfunction
Diastrophic dysplasia
Diastrophic dysplasia/Multiple...
Dicarboxylic aminoaciduria
DICER1-related pleuropulmonary...
DICER1 syndrome
Diencephalic-mesencephalic jun...
Diffuse astrocytoma
Diffuse lung disease
Diffuse mesangial sclerosis
Diffuse palmoplantar keratoder...
Diffuse parenchymal lung disea...
DiGeorge sequence
Digital abnormalities intellec...
Digital arthropathy-brachydact...
Digital arthropathy-brachydact...
Digital clubbing, isolated con...
Dihydrolipoamide dehydrogenase...
Dihydropteridine reductase def...
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenas...
Dihydropyrimidine dehydrogenas...
Dilatation
Dilated/arrythmogenic cardiomy...
Dilated cardiomyopathy
Dilated cardiomyopathy 1A
Dilated cardiomyopathy 1AA
Dilated cardiomyopathy 1C
Dilated cardiomyopathy 1CC
Dilated cardiomyopathy 1EE
Dilated cardiomyopathy 1FF
Dilated cardiomyopathy 1HH
Dilated cardiomyopathy 1II
Dilated cardiomyopathy 1J
Dilated cardiomyopathy 1JJ
Dilated cardiomyopathy 1LL
Dilated cardiomyopathy 1M
Dilated cardiomyopathy 1N
Dilated cardiomyopathy 1O
Dilated cardiomyopathy 1P
Dilated cardiomyopathy 1R
Dilated cardiomyopathy 1S
Dilated cardiomyopathy 1T
Dilated cardiomyopathy 1W
Dilated cardiomyopathy 1Y
Dilated cardiomyopathy 1Z
Dilated cardiomyopathy 2A
Dilated cardiomyopathy & arrhy...
Dilated Cardiomyopathy, Domina...
Dilated cardiomyopathy failure...
Dilated cardiomyopathy-hypergo...
Dilated cardiomyopathy OCD and...
Dilated Cardiomyopathy, Recess...
Dilated cardiomyopathy sporadi...
Dilated cardiomyopathy & ventr...
Dilated cardiomyopathy with wo...
Dilated cardiomyopathy woolly ...
Dilated left ventricle
Dimethylglycine dehydrogenase ...
Diminished ovarian reserve
Disc degeneration
Disease of immune dysregulatio...
Disordered steroidogenesis
Disordered steroidogenesis due...
Disorder of androgen synthesis...
Disorder of golgi homeostasis
Disorder of sex development
Disorder of sexual development
Disorder of sexual development...
Disorders of Intracellular Cob...
Disorders of sex development
Disproportionate tall stature
Dissections of extracranial ar...
Disseminated atypical mycobact...
Disseminated coccidioidomycosi...
Disseminated histoplasmosis
Disseminated mucormycosis
Disseminated Rhodococcus infec...
Disseminated superficial actin...
Disseminated superficial actin...
Disseminated superficial porok...
Distal acroosteolysis poikilod...
Distal amyotrophy
Distal arthrogryposis
Distal arthrogryposis syndrome...
Distal arthrogryposis syndrome...
Distal arthrogryposis syndrome...
Distal arthrogryposis type 1A
Distal arthrogryposis type 1B
Distal arthrogryposis type 2B
Distal arthrogryposis type 5D
Distal arthrogryposis type I
Distal arthrogryposis type II
Distal contractures and cardia...
Distal hereditary motor neuron...
Distal hereditary motor neuron...
Distal hereditary motor neuron...
Distal hereditary motor neuron...
Distal hereditary motor neuron...
Distal hereditary motor neuron...
Distal lower limb muscle weakn...
Distal motor neuropathy
Distal motor neuropathy / Char...
Distal muscle weakness
Distal myopathy
Distal myopathy adolescent-ons...
Distal myopathy & core-like fe...
Distal myopathy Laing
Distal myopathy, Tateyama type
Distal myopathy with cachexia
Distal myopathy with nemaline ...
Distal renal tubular acidosis
Distal renal tubular acidosis ...
Distal Renal Tubular Acidosis,...
Distal shortening of limbs
Distal spinal muscular atrophy
Distal spinal muscular atrophy...
Distal spinal muscular atrophy...
Distal spinal muscular atrophy...
Distal spinal muscular atrophy...
Distichiasis-lymphedema syndro...
Disturbed ossification of the ...
DNA ligase I deficiency
DNA topoisomerase I, camptothe...
DOCK2 deficiency
DOCK8 deficiency
Dolichol kinase congenital dis...
Dolichol kinase deficiency
Dominant hereditary optic atro...
Donnai Barrow syndrome
Donnai-Barrow syndrome
Donnai-Barrow syndrome with hy...
Donohue syndrome
DOORS syndrome
Dopamine beta hydroxylase defi...
Dopamine transporter deficienc...
Double cortex syndrome
Double outlet right ventricle
Dowling-Degos disease
Dowling-Degos disease 2
Dowling-degos disease 4
Drash syndrome
Dravet-like syndrome
Dravet-like syndrome / epilept...
Dravet syndrome
DRUG METABOLISM, ALTERED, CES1...
Drug-resistent seizures and ne...
Drusen basal laminar
Duane retraction syndrome
Duane retraction syndrome 2
Duane syndrome
Duane syndrome type 2
Dubin-Johnson syndrome
Dubowitz-like syndrome
Duchenne muscular dystrophy
Ductal breast carcinoma
Duodenal adenocarcinoma
DuPan syndrome
Dursun syndrome
Dusty core disease
Dyggve-Melchior-Clausen syndro...
Dysalbuminaemic hyperthyroxina...
Dysarthria ataxia and sensory ...
Dysarthria dystonia spastic pa...
Dysautonomia familial
Dyschromatosis symmetrica here...
Dyschromatosis universalis her...
Dyschromatosis universalis her...
Dysequilibrium syndrome
Dyseryhthropoietic anaemia
Dyserythropoietic anaemia
Dyserythropoietic anaemia and ...
Dyserythropoietic anaemia/side...
Dysferlinopathy
Dysfibrinogenaemia
Dysfibrinogenemia
Dysgammaglobulinaemia
Dysgammaglobulinaemia and auto...
Dysgnathia complex
Dyskeratosis congenita
Dyskeratosis congenita autosom...
Dyskeratosis congenita, autoso...
Dyskeratosis congenita, autoso...
Dyskeratosis congenita, autoso...
Dyskeratosis congenita, autoso...
Dyskeratosis congenita autosom...
Dyskeratosis congenita autosom...
Dyskeratosis congenita, autoso...
Dyskeratosis congenita, autoso...
Dyskeratosis congenita, autoso...
Dyskeratosis congenita cryptic
Dyskeratosis congenita / Hoyer...
Dyskeratosis Congenita, Recess...
Dyskeratosis congenita with se...
Dyskeratosis congenita X-linke...
Dyskinesia ADCY5-related
Dyskinesia, familial, with fac...
Dyskinesia paroxysmal
Dyskinesia with facial myokymi...
Dyskinetic movement disorder
Dyskinetic movement disorder m...
Dyslipidaemia and colorectal c...
Dysmorphic/Dysplasia
Dysmorphic features & developm...
Dysmorphic features increased ...
Dysmorphic features intellectu...
Dysmorphism
Dysmorphism seizures developme...
Dysmorphy truncal hypotony opi...
Dysosteosclerosis
Dysplasia arrhythmogenic right...
Dysplasia of acetabulum
Dysplasminogenemia
Dysplastic leukoencephalopathy...
Dysplastic megalencephaly
Dysplastic spondylolysis
Dyspnea progressive
Dysprothrombinaemia
Dysspondyloenchondromatosis
Dysspondyloenchondromatosis / ...
Dystonia
Dystonia 1
Dystonia 10
Dystonia 12
Dystonia 16
Dystonia 24
Dystonia 25
Dystonia 26, myoclonic
Dystonia 2, torsion, autosomal...
Dystonia 3, torsion, X-linked
Dystonia 4
Dystonia 5, Dopa-responsive ty...
Dystonia 6
Dystonia 6, torsion
Dystonia 9
Dystonia adult-onset
Dystonia cerebellar atrophy & ...
Dystonia cervical
Dystonia cranio-cervical
Dystonia dopa-responsive
Dystonia, dopa-responsive
Dystonia dopa-responsive autos...
Dystonia, dopa-responsive, wit...
Dystonia dopa-responsive with ...
Dystonia early-onset
Dystonia generalised
Dystonia generalised childhood...
Dystonia generalised early-ons...
Dystonia hypotonia & intellect...
Dystonia idiopathic isolated
Dystonia, intellectual disabil...
Dystonia jaw-opening
Dystonia Laryngeal
Dystonia L-DOPA-responsive
Dystonia-myoclonus
Dystonia of soft palate
Dystonia-parkinsonism
Dystonia-parkinsonism adult-on...
Dystonia-parkinsonism autosoma...
Dystonia-parkinsonism early on...
Dystonia-parkinsonism early-on...
Dystonia-parkinsonism infantil...
Dystonia-parkinsonism rapid-on...
Dystonia-parkinsonism with dip...
Dystonia paroxysmal exercise-i...
Dystonia primary adult-onset
Dystonia primary torsion
Dystonia progressive
Dystonia progressive generalis...
Dystonia segmental
Dystransthyretinemic euthyroid...
Early generalised epilepsy
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early Infantile Epileptic Ence...
Early Infantile Epileptic Ence...
Early infantile epileptic ence...
Early infantile epileptic ence...
Early myoclonic encephalopathy
Early-Onset Familial Alzheimer...
Early onset paroxysmal dyskine...
Early-onset progressive enceph...
Early-onset sarcoidosis
Early repolarization syndrome
Early T cell progenitor acute ...
Ebstein anomaly
Ebstein anomaly left ventricul...
Ebstein anomaly left ventricul...
Eccentric core disease
Ectodermal derivative impairme...
Ectodermal dysplasia
Ectodermal dysplasia 10a, hypo...
Ectodermal dysplasia 11a, hypo...
Ectodermal dysplasia 11b, hypo...
Ectodermal dysplasia 12, hypoh...
Ectodermal dysplasia 13, hair/...
ECTODERMAL DYSPLASIA 14, HAIR/...
Ectodermal dysplasia anhidroti...
Ectodermal dysplasia, anhidrot...
Ectodermal dysplasia hair-nail...
Ectodermal dysplasia hypohidro...
Ectodermal dysplasia hypohidro...
Ectodermal dysplasia hypohidro...
Ectodermal dysplasia & oligodo...
Ectodermal dysplasia, 'pure' h...
Ectodermal dysplasia/short sta...
Ectodermal dysplasia skin frag...
Ectodermal dysplasia-syndactyl...
Ectodermal dysplasia-syndactyl...
Ectodermal dysplasia syndrome
Ectodermal dysplasia with immu...
Ectodermal dysplasia with immu...
Ectodermal dysplasia with seve...
Ectodermal & oculodentodigital...
Ectopia pupillae
Ectrodactyly
Ectrodactyly and acinar dyspla...
Ectrodactyly, ectodermal dyspl...
Eczema atopic
Eczema severe
EEC/AEC-like syndrome
EEC syndrome
EEC syndrome without clefting
EEG abnormality
EEM syndrome
Effort-induced polymorphic ven...
Ehlers-Danlos-like syndrome
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classi...
Ehlers-Danlos syndrome dermato...
Ehlers-Danlos syndrome & heter...
Ehlers-Danlos syndrome, hydrox...
Ehlers-Danlos syndrome II
Ehlers-Danlos syndrome III
Ehlers-Danlos syndrome IV
Ehlers-Danlos syndrome Kosho t...
Ehlers-Danlos syndrome kyphosc...
Ehlers-Danlos syndrome-like
Ehlers-Danlos syndrome musculo...
Ehlers-Danlos syndrome, muscul...
Ehlers-Danlos syndrome, muscul...
Ehlers-Danlos syndrome/Osteoge...
Ehlers-Danlos syndrome periodo...
Ehlers-Danlos syndrome, period...
Ehlers-Danlos syndrome, procol...
Ehlers-Danlos syndrome progero...
Ehlers-Danlos syndrome, proger...
Ehlers-Danlos syndrome spondyl...
Ehlers-Danlos syndrome, type 3
Ehlers-Danlos syndrome, type 4
Ehlers-Danlos syndrome, type 7...
Ehlers-Danlos syndrome vascula...
Ehlers-Danlos syndrome vascula...
Ehlers-Danlos syndrome VI
Ehlers-Danlos syndrome VII
Ehlers-Danlos syndrome with le...
Ehlers-Danlos syndrome with pr...
Ehlers-Danlos syndrome with su...
Ehlers-Danlos syndrome with va...
Eiken skeletal dysplasia with ...
Electron transfer flavoprotein...
Elevated 3-hydroxyisovalerylca...
Elevated creatine kinase level...
Elevated HDL-cholesterol
Elevated red cell ATP
Elevated serum creatine phosph...
Elliptical anterior iris strom...
Elliptocytosis
Elliptocytosis 1
Elliptocytosis 2
Elliptocytosis 3
Ellis-van Creveld syndrome
Ellis-van Creveld Syndrome
Ellis-van Creveld syndrome wit...
Embryonal rhabdomyosarcoma
Emery-Dreifuss muscular dystro...
Emery-Dreifuss muscular dystro...
Emery-Dreifuss muscular dystro...
Emery-Dreifuss muscular dystro...
Emery-Dreifuss muscular dystro...
Emery-Dreifuss muscular dystro...
Emphysema early-onset
Empty follicle syndrome
Enamel defects
Enamel-renal syndrome
ENCEPHALITIS/ENCEPHALOPATHY, M...
Encephalocardiomyopathy neonat...
Encephalocele
Encephalomyopathic mitochondri...
Encephalomyopathy childhood-on...
Encephalomyopathy & isolated m...
Encephalomyopathy & mitochondr...
Encephalomyopathy without mito...
Encephalopathy
Encephalopathy abnormal moveme...
Encephalopathy and microcephal...
Encephalopathy and myoclonic e...
Encephalopathy and spastic par...
Encephalopathy cardiomyopathy ...
Encephalopathy childhood
Encephalopathy due to defectiv...
Encephalopathy due to defectiv...
Encephalopathy early infantile
Encephalopathy early-infantile...
Encephalopathy early infantile...
Encephalopathy early myoclonic
Encephalopathy early-onset
Encephalopathy early-onset and...
Encephalopathy early-onset epi...
Encephalopathy & epilepsy
Encephalopathy epileptic
Encephalopathy ethylmalonic
Encephalopathy familial
Encephalopathy, familial, with...
Encephalopathy hepatic failure...
Encephalopathy & hyperekplexia
Encephalopathy infantile
Encephalopathy infantile-onset
Encephalopathy influenza-assoc...
Encephalopathy intellectual di...
Encephalopathy lactic acidosis...
Encephalopathy lethal due to d...
Encephalopathy muscular weakne...
Encephalopathy neonatal
Encephalopathy, neonatal sever...
ENCEPHALOPATHY, NEONATAL SEVER...
Encephalopathy neonatal with s...
Encephalopathy progressive aut...
ENCEPHALOPATHY, PROGRESSIVE, E...
Encephalopathy progressive ear...
Encephalopathy, progressive, e...
Encephalopathy, progressive, e...
Encephalopathy, progressive, e...
ENCEPHALOPATHY, PROGRESSIVE, E...
Encephalopathy, progressive, w...
Encephalopathy recurrent
Encephalopathy severe early in...
Encephalopathy severe early-on...
Encephalopathy severe early-on...
Encephalopathy severe infantil...
Encephalopathy severe neonatal
Encephalopathy severe progress...
Encephalopathy with cerebral c...
Encephalopathy with early epil...
Encephalopathy with early-onse...
Encephalopathy with growth and...
Encephalopathy with late-onset...
Encephalopathy with reversible...
Encephalopathy with seizures
Endocrine-cerebro-osteodysplas...
Endocrine-cerebroosteodysplasi...
Endometrial cancer
Endometrial cancer in Lynch sy...
Endometrial carcinoma
Endometrial Endometrioid Adeno...
Endometrial neoplasm
Endometriosis
Endosteal hyperostosis
Endplate acetylcholinesterase ...
End stage renal disease
Enlarged kidney
Enlarged parietal foramina
Enlarged vestibular aqueduct
Enlarged vestibular aqueduct &...
Enlarged vestibular aqueduct &...
Enterocolitis & autoinflammati...
Enterocolitis early-onset
Enteropathy chronic
Eosinophil peroxidase deficien...
Ependymoma
Epicanthus
Epidermal naevus with underlyi...
Epidermal nevus
Epidermolysis bullosa
Epidermolysis bullosa autosoma...
Epidermolysis bullosa Dowling-...
Epidermolysis bullosa Herlitz
Epidermolysis bullosa herpetif...
Epidermolysis bullosa junction...
Epidermolysis bullosa, junctio...
Epidermolysis bullosa junction...
Epidermolysis bullosa junction...
Epidermolysis bullosa Koebner
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex,...
Epidermolysis bullosa simplex,...
Epidermolysis bullosa simplex,...
Epidermolysis bullosa simplex,...
Epidermolysis bullosa simplex ...
Epidermolysis bullosa Weber-Co...
Epidermolysis bullosa without ...
Epidermolysis bullosa with pyl...
Epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis w...
Epidermolytic ichthyosis
Epidermolytic ichthyosis annul...
Epilepsy
Epilepsy and mental retardatio...
Epilepsy and mild pachygyria
Epilepsy and myoclonic jerks
Epilepsy and/or neurodevelopme...
Epilepsy and sleep dysregulati...
Epilepsy-aphasia syndrome
Epilepsy ataxia sensorineural ...
Epilepsy-ataxia syndrome
Epilepsy autism spectrum disor...
Epilepsy benign infantile
Epilepsy benign neonatal
Epilepsy benign neonatal-infan...
Epilepsy childhood absence
Epilepsy, childhood absence 1
Epilepsy, childhood absence 2
Epilepsy, childhood absence 5
Epilepsy childhood absence wit...
Epilepsy childhood-onset and p...
Epilepsy choreoathetosis & men...
Epilepsy developmental delay a...
Epilepsy developmental delay a...
Epilepsy drug-resistant
Epilepsy due to perinatal stro...
Epilepsy early-onset
Epilepsy, early-onset, vitamin...
Epilepsy episodic prolonged ap...
Epilepsy, familial adult myocl...
Epilepsy familial focal with v...
Epilepsy, familial focal, with...
Epilepsy, familial focal, with...
Epilepsy, familial focal, with...
Epilepsy familial temporal lob...
Epilepsy, familial temporal lo...
Epilepsy, familial temporal lo...
Epilepsy, familial temporal lo...
Epilepsy female
Epilepsy focal
Epilepsy focal idiopathic
Epilepsy focal symptomatic
Epilepsy focal with speech dis...
Epilepsy, focal, with speech d...
Epilepsy generalised
Epilepsy generalised and tonic...
Epilepsy generalised with febr...
Epilepsy, hearing loss, and me...
Epilepsy idiopathic
Epilepsy idiopathic generalise...
Epilepsy idiopathic generalise...
Epilepsy, idiopathic generaliz...
Epilepsy, idiopathic generaliz...
Epilepsy, idiopathic generaliz...
Epilepsy infantile
Epilepsy infantile-onset
Epilepsy infantile-onset & abn...
Epilepsy & intellectual disabi...
Epilepsy intractable
Epilepsy, juvenile absence 2
Epilepsy juvenile myoclonic
Epilepsy lateral temporal
Epilepsy lateral temporal auto...
Epilepsy lateral temporal lobe...
Epilepsy & mental retardation
Epilepsy mental retardation sh...
Epilepsy myoclonic
Epilepsy neonatal
Epilepsy neonatal onset
Epilepsy neonatal with episodi...
Epilepsy nocturnal frontal lob...
Epilepsy nocturnal frontal lob...
Epilepsy, nocturnal frontal lo...
Epilepsy, nocturnal frontal lo...
Epilepsy, nocturnal frontal lo...
Epilepsy of infancy with migra...
Epilepsy partial and myokymia
Epilepsy partial with auditory...
Epilepsy partial with telephon...
Epilepsy photosensitive
Epilepsy photosensitive genera...
Epilepsy progressive myoclonic
Epilepsy, progressive myocloni...
Epilepsy, progressive myocloni...
Epilepsy, progressive myocloni...
Epilepsy, progressive myocloni...
Epilepsy, progressive myocloni...
Epilepsy, progressive myocloni...
Epilepsy, progressive myocloni...
Epilepsy progressive myoclonus
Epilepsy pyridoxine-dependent
Epilepsy refractory juvenile-o...
Epilepsy rolandic
Epilepsy rolandic & benign neo...
Epilepsy rolandic without neon...
Epilepsy, rolandic with paroxy...
Epilepsy syndromic
Epilepsy vitamin B6-dependent
Epilepsy with auditory feature...
Epilepsy with febrile seizures...
Epilepsy with grand mal seizur...
Epilepsy with myoclonic-atonic...
Epilepsy with myoclonic-atonic...
Epilepsy with myoclonic-atonic...
Epilepsy with nocturnal wander...
Epilepsy with polymicrogyria
Epilepsy with progressive ence...
Epilepsy, X-linked, with varia...
Epileptic encephalopathies
Epileptic encephalopathy
Epileptic encephalopathy abnor...
Epileptic encephalopathy and i...
Epileptic encephalopathy atypi...
Epileptic encephalopathy atypi...
Epileptic encephalopathy child...
Epileptic encephalopathy, chil...
Epileptic encephalopathy & com...
Epileptic encephalopathy devel...
Epileptic encephalopathy devel...
epileptic encephalopathy, earl...
Epileptic encephalopathy early...
Epileptic encephalopathy, earl...
Epileptic encephalopathy early...
Epileptic encephalopathy early...
Epileptic encephalopathy, earl...
Epileptic encephalopathy early...
Epileptic encephalopathy early...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy early...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy early...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
Epileptic encephalopathy, earl...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
EPILEPTIC ENCEPHALOPATHY, EARL...
Epileptic encephalopathy early...
Epileptic encephalopathy early...
Epileptic encephalopathy early...
Epileptic encephalopathy early...
Epileptic encephalopathyearly ...
Epileptic encephalopathy early...
Epileptic encephalopathy early...
Epileptic encephalopathy early...
Epileptic encephalopathy early...
Epileptic encephalopathy infan...
Epileptic encephalopathy infan...
Epileptic encephalopathy, infa...
Epileptic encephalopathy, infa...
Epileptic encephalopathy, infa...
Epileptic encephalopathy & int...
Epileptic encephalopathylethal...
Epileptic encephalopathy neona...
Epileptic encephalopathy nonsy...
Epileptic encephalopathy type ...
Epileptic encephalopathy uncla...
Epileptic encephalopathy with ...
Epileptic encephalopathy with ...
Epileptic encephalopathy with ...
Epileptic encephalopathy with ...
Epileptic encephalopathy with ...
Epileptic encephalopathy with ...
Epileptic encephalopathy with ...
Epileptic encephalopathy WWOX-...
Epileptic seizures intellectua...
Epileptic spasms late-onset
Epilepticus of slow-wave sleep
Epiphyseal chondrodysplasia, m...
Epiphyseal dysplasia, multiple...
EPIPHYSEAL DYSPLASIA, MULTIPLE...
Epiphyseal dysplasia of the fe...
Episodic ataxia
Episodic ataxia 1
Episodic ataxia 6
Episodic ataxia exercise-induc...
Episodic ataxia/hemiplegia/sei...
Episodic ataxia / myokymia
Episodic ataxia type 1
Episodic ataxia type 6
Episodic ataxia, type 6
Episodic ataxia with cerebella...
Episodic laryngospasm severe n...
Episodic muscle paralysis
Episodic pain syndrome
Episodic paralyses and myotoni...
Epistaxis
Epistaxis recurrent
Epithelial inflammation
Epstein-Barr virus associated ...
Epstein/Fechtner syndrome
ERCC6-Related Disorders
Erythrocyte AMP deaminase defi...
Erythrocyte band 3 deficiency
Erythrocyte lactate transport ...
Erythrocyte lactate transporte...
Erythrocytosis
Erythrocytosis and paraganglio...
Erythrocytosis, familial, 2
Erythrocytosis familial 3
Erythrocytosis, familial, 3
Erythrocytosis, familial, 4
Erythrocytosis idiopathic
Erythrocytosis & pulmonary art...
Erythrocytosis with megakaryoc...
Erythrokeratoderma progressive...
Erythrokeratodermia and cardio...
Erythrokeratodermia progressiv...
Erythrokeratodermia variabilis
Erythrokeratodermia variabilis...
Erythrokeratodermia variabilis...
Erythrokeratodermia variabilis...
Erythrokeratodermia variabilis...
Erythrokeratodermia variabilis...
Erythrokeratodermia with ataxi...
Erythromelalgia late-onset
Erythromelalgia primary
Erythromelalgia primary with w...
Escobar syndrome
Esophageal carcinoma, somatic
Esophageal squamous cell carci...
Essential fructosuria
essential thrombocytemia
Essential tremor
Essential tremor early-onset
Estrogen resistance
Ethylmalonic aciduria
Ethylmalonic encephalopathy
Euthyroid hyperthyroxinaemia
Evans syndrome, immunodeficien...
Even-plus syndrome
EVEN-PLUS syndrome
Exaggerated startle response
Excessive daytime sleepiness
Exercise intolerance myalgia &...
Exercise intolerance riboflavi...
Exercise intolerance, riboflav...
Exertional myalgia and/or rhab...
Exocrine pancreatic insufficie...
Exocrine pancreatic insufficie...
Exostosin-2-related syndrome
Exotropia
Exstrophy-epispadias complex
External ophthalmoplegia
External Ophthalmoplegia Rib a...
Extraadrenal paraganglial tumo...
Extraoral halitosis
Extreme microcephaly with seve...
Exudative retinopathy
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 4
Exudative vitreoretinopathy 4,...
Exudative vitreoretinopathy 4,...
Exudative vitreoretinopathy, X...
Eye developmental anomalies au...
Eye development defects
Eye-intellectual disability sy...
Eye / skeletal anomalies
Ezetimibe response
Fabry disease
Fabry disease atypical variant
Fabry disease cardiac
Fabry disease, cardiac variant
Fabry disease late-onset
Facial asymmetry
Facial dysmorphism hypertricho...
Facial dysmorphism, immunodefi...
Facial dysmorphism immunodefic...
Facial dysmorphism, lens dislo...
Facial dysmorphism lens disloc...
Facial dysmorphism scalp hypot...
Facial dysmorphism with develo...
Facial grimacing
Facial onset sensory and motor...
Facial palsy bilateral ptosis ...
FACIAL PALSY, CONGENITAL, WITH...
Facial paresis
Facial umbilical coccygeal & a...
Facioaudiosymphalangism syndro...
Facioscapulohumeral-like muscu...
Facioscapulohumeral muscular d...
Facioscapulohumeral muscular d...
Facioscapuloperoneal myopathy
Factor H deficiency
Factor v and factor viii, comb...
Factor V and factor VIII defic...
Factor V and Factor VIII defic...
Factor V deficiency
Factor V Hong Kong
Factor VII deficiency
Factor VII Marburg I Variant T...
Factor X deficiency
Factor X deficiency Riyadh typ...
Factor XI deficiency
Factor XII deficiency
Factor XII deficiency disease
Factor XIII-A type II deficien...
Factor XIII deficiency
Factor XIII subunit A deficien...
Factor XIII subunit B deficien...
FADD deficiency
Failure of tooth eruption, pri...
Failure to thrive
Failure to thrive hearing loss...
Failure to thrive hypertriglyc...
Failure to thrive immunodefici...
Failure to thrive lactic acido...
Failure to thrive psychomotor ...
Fallopian tube cancer
Familial abdominal aortic aneu...
Familial acne inversa 1
Familial adenomatous polyposis
Familial adenomatous polyposis...
Familial adenomatous polyposis...
Familial advanced sleep phase
Familial advanced sleep phase ...
Familial advanced sleep phase ...
Familial amyloid nephropathy w...
Familial amyloid polyneuropath...
Familial aortopathy
Familial atrial fibrillation
Familial Atypical Mycobacterio...
Familial Atypical Mycobacterio...
Familial benign pemphigus
Familial cancer of breast
Familial Candidiasis, Dominant
Familial Candidiasis, Recessiv...
Familial cardiomyopathy
Familial cold autoinflammatory...
Familial cold autoinflammatory...
Familial cold autoinflammatory...
Familial cold autoinflammatory...
Familial cold urticaria
Familial colorectal cancer
Familial colorectal cancer typ...
Familial Diabetes mellitus
Familial dilated cardiomyopath...
Familial dysautonomia
Familial episodic pain syndrom...
Familial erythrocytosis
Familial exudative vitreoretin...
Familial exudative vitreoretin...
Familial febrile seizures 8
Familial glioma
Familial hematuria
Familial hemiplegic migraine
Familial hemiplegic migraine t...
Familial hemophagocytic lympho...
Familial High Density Lipoprot...
Familial hyperaldosteronism ty...
Familial hypercholesterolemia
Familial hypercholesterolemia ...
Familial hypercholesterolemia ...
Familial hypercholesterolemia ...
Familial hyperinsulinism
Familial hyperkalemic periodic...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypertrophic cardiomy...
Familial hypoalphalipoproteine...
Familial hypocalciuric hyperca...
Familial hypokalemia-hypomagne...
Familial hypoplastic, glomerul...
Familial infantile myasthenia
Familial Intrahepatic Cholesta...
Familial isolated dilated card...
Familial isolated hyperparathy...
Familial Isolated Pituitary Ad...
Familial juvenile gout
Familial Mediterranean fever
Familial medullary thyroid car...
Familial multiple trichoepithe...
Familial partial lipodystrophy
Familial partial lipodystrophy...
Familial partial lipodystrophy...
Familial partial lipodystrophy...
Familial partial lipodystrophy...
Familial Periodic Fever
Familial periodic paralysis
Familial platelet disorder wit...
Familial porphyria cutanea tar...
Familial renal glucosuria
Familial renal hypouricemia
Familial restrictive cardiomyo...
Familial restrictive cardiomyo...
Familial temporal lobe epileps...
Familial temporal lobe epileps...
Familial thoracic aortic aneur...
Familial type 3 hyperlipoprote...
Familial type III hyperlipopro...
Familial visceral amyloidosis,...
Familial X-linked hypophosphat...
Fanconi anaemia
Fanconi anaemia atypical
Fanconi anaemia D1
Fanconi anaemia-like disorder
Fanconi anaemia with VACTERL a...
Fanconi anemia
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
Fanconi anemia, complementatio...
FANCONI ANEMIA, COMPLEMENTATIO...
Fanconi-Bickel syndrome
Fanconi renotubular syndrome 3
Fanconi syndrome renal
Farber disease
Fast channel myasthenic syndro...
Fasting plasma glucose level q...
Fatal infantile encephalopathy...
Fatal infantile onset cardiomy...
Fatal surfactant deficiency
Fatigue muscle complaints & dy...
FBXL4 deficiency
Febrile and afebrile seizures
Febrile seizures
Febrile seizures & epilepsy
Febrile seizures, familial, 11
Febrile seizures, familial, 3b
Febrile seizures plus
Febrile seizures with intellec...
Febrile seizure with early-ons...
Fechtner syndrome
Feingold syndrome
Feingold syndrome 1
Female infertility and fertili...
Female infertility with oocyte...
Fertilisation failure
Fertilisation failure and/or p...
Fetal abnormalities
Fetal akinesia
FETAL AKINESIA DEFORMATION SEQ...
FETAL AKINESIA DEFORMATION SEQ...
Fetal akinesia deformation seq...
Fetal growth restriction early...
Fetal hemoglobin quantitative ...
Fetal hypokinesia
Fetal/neonatal alloimmune thro...
FGFR2 related craniosynostosis
FG syndrome
FG syndrome 2
FG syndrome 4
Fibre lipid storage myopathy t...
Fibre type disproportion conge...
Fibre type disproportion conge...
Fibre-type disproportion myopa...
Fibrochondrogenesis
Fibrochondrogenesis 1
Fibrodysplasia ossificans prog...
Fibrosis neurodegeneration and...
FIBROSIS, NEURODEGENERATION, A...
Fibrosis of extraocular muscle...
Fibrosis of extraocular muscle...
Fibrosis of extraocular muscle...
Fibrosis of extraocular muscle...
Fibrosis of extraocular muscle...
Fibrosis of extraocular muscle...
Fibrous dysplasia of jaw
Fibrous Sheath Dysplasia
Fibular hypoplasia and complex...
Finnish congenital nephrotic s...
Fish eye disease
Fish-eye disease
FJHN/MCKD syndrome
Flail arm syndrome
Fleck corneal dystrophy
FLNA related disorders
FLNA-related X-linked myxomato...
FLNB-Related Disorders
FLNB-Related Spectrum Disorder...
Floating-Harbor syndrome
Fluindione resistance
Fluorouracil response
Focal cortical dysplasia type ...
Focal dermal hypoplasia
Focal dystonia late onset
Focal epilepsy
Focal epilepsy and autism
Focal epilepsy and sleep dysre...
Focal epilepsy developmental d...
Focal epilepsy developmental d...
Focal epilepsy developmental d...
Focal epilepsy drug-resistant
Focal epilepsy dysarthria & in...
Focal epilepsy & intellectual ...
Focal epilepsy non-acquired
Focal facial dermal dysplasia ...
Focal palmoplantar keratoderma
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal segmental glomeruloscler...
Focal seizures with secondary ...
Foetal akinesia
Foetal akinesia syndrome
Foetal hyperechogenic bowel
Foetal nuchal oedema and hydro...
Follicle-stimulating hormone d...
Follicle-stimulating hormone d...
Follicular thyroid carcinoma
Fontaine progeroid syndrome
Fontaine syndrome
Foramina parietalia permagna
Forebrain defects
Formiminoglutamic acidura
Foveal hypoplasia
Foveal hypoplasia 1 with catar...
Foveal hypoplasia 2
Foveal hypoplasia and optic ne...
Foveal hypoplasia and presenil...
Foveal hypoplasia optic nerve ...
Foveal hypoplasia with seconda...
Foveal retinoschisis autosomal...
FOXG1 syndrome
FOXN1 deficiency
FOXP1 syndrome
Fragile X mental retardation s...
Fragile X syndrome
Frank Ter Haar syndrome
Frank-Ter Haar syndrome
Frasier syndrome
Freeman-Sheldon syndrome
Friedreich ataxia
Friedreich ataxia 1
Frontal lissencephalic cortica...
Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 2
Frontometaphyseal dysplasia wi...
Frontonasal dysplasia
Frontonasal dysplasia 1
Frontonasal dysplasia 2
Frontonasal dysplasia 3
Frontonasal dysplasia acromeli...
Frontorhiny
Frontotemporal dementia
Frontotemporal dementia / amyo...
Frontotemporal dementia and/or...
Frontotemporal dementia and/or...
Frontotemporal dementia and/or...
Frontotemporal Dementia, Chrom...
Frontotemporal dementia/cortic...
Frontotemporal dementia-like s...
Frontotemporal dementia & prog...
Frontotemporal dementia supran...
Frontotemporal dementia, ubiqu...
Frontotemporal dementia with P...
Frontotemporal dementia with p...
Frontotemporal dementia with p...
FRONTOTEMPORAL DEMENTIA WITH T...
Frontotemporal lobar degenerat...
Frontotemporal lobar degenerat...
Fructose-16-bisphosphatase def...
Fructose-biphosphatase deficie...
Fructose intolerance
Fructosuria, essential
FSHR activation
Fuchs corneal dystrophy
Fucosidosis
Fucosyltransferase deficiency
Fuhrmann syndrome
Fukuyama congenital muscular d...
Fulminant hepatic failure
Fumarase deficiency
Fumarylacetocacetase pseudodef...
Fundus albipunctatus
Fundus albipunctatus, autosoma...
Fundus dystrophy Sorsby
Fundus flavimaculatus
Fundus flavimaculatus with epi...
Fungal infections susceptibili...
Furlong syndrome
GABA-transaminase deficiency
GABRIELE-DE VRIES SYNDROME
Gait disturbance
Galactokinase deficiency
Galactosaemia
Galactosaemia Duarte variant
Galactosaemia epimerase defici...
Galactosemia
Galactosialidosis
Galactosialidosis early infant...
Galactosialidosis, early infan...
Galactosialidosis, late infant...
Galactosylceramide beta-galact...
Gallbladder disease 1
Galloway-Mowat syndrome
Galloway-Mowat syndrome 1
GALLOWAY-MOWAT SYNDROME 2, X-L...
GALLOWAY-MOWAT SYNDROME 3
GALLOWAY-MOWAT SYNDROME 4
GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 6
GALLOWAY-MOWAT SYNDROME 7
Gallstone & liver disease
Gamma-aminobutyric acid transa...
Gamma-glutamyl carboxylase def...
Gamma-glutamylcysteine synthet...
Gamma-glutamylcysteine synthet...
Ganglioneuroblastoma
Gangliosidosis GM1
Gangliosidosis GM1 infantile
Gangliosidosis GM1 juvenile
Gangliosidosis GM1 late-infant...
Gangliosidosis GM1 / Morquio d...
Gangliosidosis GM1 type 3
Gangliosidosis GM2
GAPO syndrome
Gardner syndrome
Gastric cancer
Gastric cancer diffuse
Gastric cancer predisposition ...
Gastric neuroendocrine tumour ...
Gastro-duodenal ulcers
Gastrointestinal mesenchymal t...
Gastrointestinal polyposis
Gastrointestinal stromal tumor...
Gastrointestinal stromal tumou...
Gastrointestinal stroma tumor
Gastrointestinal tumour stroma...
GASTROINTESTINAL ULCERATION, R...
GATA-1-related thrombocytopeni...
GATA2 deficiency
Gaucher disease
Gaucher disease 1
Gaucher disease 2
Gaucher disease 3
Gaucher disease atypical
Gaucher disease, atypical, due...
Gaucher disease/Parkinson dise...
Gaucher disease, perinatal let...
Gaucher disease, type 1
Gaze palsy, familial horizonta...
Gaze palsy horizontal
Gaze palsy horizontal with pro...
GBE1-Related Disorders
Geleophysic dysplasia
Geleophysic dysplasia 1
Generalised convulsive & intra...
Generalized arterial calcifica...
Generalized dystonia athetosis...
Generalized epilepsy
Generalized epilepsy and parox...
Generalized epilepsy developme...
Generalized epilepsy with febr...
Generalized epilepsy with febr...
GENERALIZED EPILEPSY WITH FEBR...
Generalized epilepsy with febr...
Generalized epilepsy with febr...
Generalized epilepsy with mild...
Generalized epilepsy with myoc...
Generalized epilepsy with seve...
Generalized hypotonia
Generalized myoclonic seizures
Generalized tonic-clonic seizu...
Generalized tonic-clonic seizu...
Genetic epilepsy with febrile ...
Genetic prion diseases
Genitopatellar syndrome
Germinoma
Geroderma osteodysplastica
Gerodermia osteodysplasticum
Gerstmann-Straeussler-Scheinke...
Gerstmann-Straeussler syndrome
Gerstmann-Straussler-Scheinker...
Ghosal hematodiaphyseal dyspla...
Ghosal hematodiaphyseal syndro...
Giant axonal neuropathy
Giant axonal neuropathy 2, aut...
Giant axonal neuropathy with s...
Giant platelet disorder
Gigantism
Gilbert syndrome
Gillespie syndrome
Gingival fibromatosis
Gingival overgrowth
Gitelman-like syndrome
Gitelman syndrome
Gitelman syndrome & diabetes
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Glanzmann thrombasthenia 2
Glaucoma
Glaucoma 1 open angle
Glaucoma 1, open angle, a, dig...
Glaucoma 1, open angle, B
Glaucoma 1, open angle, e
Glaucoma 1, open angle, F
Glaucoma 1, open angle, G
Glaucoma 1, open angle, O
Glaucoma 1, open angle, p
Glaucoma and aniridia
Glaucoma ASD dysmorphic facial...
Glaucoma narrow angle
Glaucoma open angle
Glaucoma open angle juvenile o...
Glaucoma open angle sporadic j...
Glaucoma primary
Glaucoma primary congenital
Glaucoma primary open angle
Glaucoma primary open angle s...
Glaucoma with retinal detachme...
Glioblastoma
Glioblastoma & colon cancer
Glioblastoma multiforme, somat...
Glioma
Glioma and meningioma
Glioma susceptibility 1
Global developmental delay
Global developmental delay and...
Global developmental delay and...
Global developmental delay & e...
Global developmental delay epi...
Global developmental delay epi...
Global developmental delay epi...
Global developmental delay epi...
Global developmental delay fai...
Global developmental delay fai...
Global developmental delay hea...
Global developmental delay hip...
Global developmental delay hol...
Global developmental delay hyp...
Global developmental delay int...
Global developmental delay int...
Global developmental delay lig...
Global developmental delay meg...
Global developmental delay mic...
Global developmental delay mic...
Global developmental delay mic...
Global developmental delay pri...
GLOBAL DEVELOPMENTAL DELAY, PR...
Global developmental delay & s...
Global developmental delay sei...
Global developmental delay sei...
Global developmental delay sei...
Global developmental delay sev...
Global developmental delay wit...
Global development delay and e...
Global development delay and i...
Global development delay and s...
Global development delay intel...
Globozoospermia
Globular glial tauopathy type ...
Glomerular kidney disease
Glomerular microscopic haematu...
Glomerulocystic kidney disease
Glomerulocystic kidney disease...
Glomerulonephritis
Glomerulonephritis C3
Glomerulonephritis with isolat...
Glomerulopathy
Glomerulopathy with fibronecti...
Glomerulopathy with fibronecti...
Glomerulopathy X-linked
Glomerulosclerosis focal segme...
Glomus tumour
Glomuvenous malformations
Glucagon cell adenomatosis
Glucagon cell hyperplasia and ...
Glucocorticoid deficiency
Glucocorticoid Deficiency
Glucocorticoid deficiency 4 wi...
Glucocorticoid deficiency with...
Glucocorticoid receptor defici...
Glucocorticoid resistance
Glucocorticoid resistance, cel...
Glucocorticoid resistance, gen...
Glucose 6 phosphate dehydrogen...
Glucose-6-phosphate dehydrogen...
Glucose / galactose malabsorpt...
Glucosephosphate isomerase def...
Glucose transporter type 1 def...
Glucosidase 1 deficiency
GLUT1 deficiency syndrome 1
GLUT1 deficiency syndrome 1, a...
GLUT1 deficiency syndrome 2
Glutamate excess infantile cat...
Glutamate formiminotransferase...
GLUTAMATE FORMIMINOTRANSFERASE...
Glutaminase deficiency
Glutamine deficiency
Glutamine deficiency, congenit...
Glutaric acidaemia 1
Glutaric acidaemia 2
Glutaric acidaemia 2a
Glutaric acidaemia 2b
Glutaric acidaemia 2c
Glutaric acidemia
Glutaric acidemia IIA
Glutaric acidemia IIB
Glutaric acidemia IIC
Glutaric aciduria 2a
Glutaric aciduria 2b
Glutaric aciduria 3
Glutaric aciduria, type 1
Glutaric aciduria, type 2
Glutaryl-CoA oxidase deficienc...
Glutathione reductase deficien...
Glutathione synthetase deficie...
Glutathione synthetase deficie...
Gluthathione synthetase defici...
Glycerol kinase deficiency
Glycine encephalopathy
Glycine encephalopathy with no...
Glycine N-methyltransferase de...
Glycogen content in skeletal m...
Glycogenic acanthosis
Glycogenin 1 deficiency
Glycogen phosphorylase kinase ...
Glycogen storage disease
Glycogen storage disease 0
Glycogen storage disease 0, mu...
Glycogen storage disease 1a
Glycogen storage disease 1a wi...
Glycogen storage disease 2
Glycogen storage disease 2b
Glycogen storage disease 2 inf...
Glycogen storage disease 2 juv...
Glycogen storage disease 2 lat...
Glycogen storage disease 2 lat...
Glycogen storage disease 4
Glycogen storage disease 4 non...
Glycogen storage disease 6
Glycogen storage disease 7
Glycogen storage disease 9
Glycogen storage disease 9c
Glycogen storage disease II, a...
Glycogen storage disease IV, c...
Glycogen storage disease IXb
Glycogen storage disease IXc
Glycogen storage disease of he...
Glycogen storage disease type ...
Glycogen storage disease type ...
Glycogen storage disease, type...
Glycogen storage disease, type...
Glycogen storage disease, type...
Glycogen storage disease, type...
Glycogen storage disease, type...
Glycogen storage disease, type...
Glycogen storage disease type ...
Glycogen storage disease XI
Glycogen storage disease XV
Glycolate oxidase deficiency
Glycosylation disorder
Glycosylphosphatidylinositol-a...
GLYCOSYLPHOSPHATIDYLINOSITOL B...
Glycosylphosphatidylinositol d...
GM1 gangliosidosis
GM1-gangliosidosis, type I, wi...
GM3 synthase deficiency
GNE myopathy
GnRH deficiency
Goiter, multinodular 1, with o...
Goitre
Goitre adenomatous
Goitre congenital
Goitre multinodular non-toxic
Goitre simple
Goitre with hypothyroidism
Goitrous hypothyroidism
Golabi-Ito-Hall syndrome
Goldberg-Shprintzen megacolon ...
Goldmann-Favre syndrome
Gonadal dysgenesis
GONADAL DYSGENESIS, DYSMORPHIC...
Gonadoblastoma
Gonadotropin-independent famil...
Gonadotropin-independent preco...
Gordon Holmes syndrome
Gorlin syndrome
Gout primary
Gracile bone dysplasia
GRACILE syndrome
Grade I preterm intraventricul...
Granulomatous arthritis paedia...
Granulomatous disease, chronic...
Granulomatous disease, chronic...
Granulomatous disease, chronic...
Granulosa cell tumor of the ov...
Gray platelet syndrome
Grebe syndrome
Greenberg dysplasia
Greenberg skeletal dysplasia
Grey platelet syndrome
Griscelli disease
Griscelli syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Groenouw corneal dystrophy typ...
Gross motor regression dysarth...
Growth abnormality
Growth and mental retardation,...
Growth delay microcephaly & in...
Growth failure eczema & elevat...
Growth failure/short stature
Growth hormone deficiency
Growth hormone deficiency 1B
Growth hormone deficiency 2
Growth hormone deficiency isol...
Growth hormone deficiency with...
Growth hormone insensitivity
Growth hormone insensitivity &...
Growth hormone insensitivity w...
Growth impairment
Growth/puberty delay
Growth restriction microcephal...
Growth retardation
Growth retardation and develop...
Growth retardation and neurolo...
Growth retardation, developmen...
Growth retardation, intellectu...
Growth retardation intrauterin...
Growth retardation & microceph...
Growth retardation & multiple ...
Growth retardation prenatal on...
Growth retardation with neutro...
GTP cyclohydrolase I deficienc...
GTP-cyclohydrolase I deficienc...
GTP-cyclohydrolase I deficienc...
Guanidinoacetate methyltransfe...
Guttmacher syndrome
Gynaecomastia
Gyrate atrophy
Gyrate atrophy of choroid and ...
Haemangioblastoma
Haemangioma infantile
Haematuria
Haemochromatosis
Haemochromatosis juvenile
Haemochromatosis type 2a late-...
Haemochromatosis type 4
Haemoglobin H disease
Haemoglobinopathy beta
Haemoglobin variant
Haemolysis elevated liver enzy...
Haemolysis mild chronic
Haemolytic anaemia
Haemolytic anaemia nonspherocy...
Haemolytic disease of the fetu...
Haemolytic disease of the newb...
Haemolytic uraemic syndrome
Haemolytic uraemic syndrome at...
Haemolytic uraemic syndrome at...
Haemolytic uraemic syndrome St...
Haemophagocytic lymphohistiocy...
Haemophagocytic lymphohistiocy...
Haemophagocytic lymphohistiocy...
Haemophagocytic lymphohistiocy...
Haemophagocytic lymphohistiocy...
Haemophagocytic lymphohistiocy...
Haemophilia A
Haemophilia B
Haemophilia B severe
Haemophilia B skewed X-inactiv...
Haemorrhages
Haemorrhagic destruction of th...
Haemorrhagic diathesis hepatic...
Haemorrhagic stroke
Haemorrhagic telangiectasia 2
Hailey-Hailey disease
Haim-Munk syndrome
Hair loss keratoderma & cardio...
Hair morphology 1, hair thickn...
Hajdu-Cheney syndrome
Hallerman-Streiff/ODDD syndrom...
Hamamy syndrome
Hamartoma tumour syndrome
Hand-foot-genital syndrome
Hand foot uterus syndrome
Hand malformation congenital
Hand tremor
H antigen Bombay phenotype
H antigen para-Bombay phenotyp...
H antigen Reunion phenotype
Haploinsufficiency of A20
Harderoporphyria
Harel-Yoon syndrome
HARP syndrome
Hartnup disorder
Hartsfield syndrome
Hawkinsinuria
Hay-Wells syndrome of ectoderm...
HDL deficiency
Head and neck cancer
Head and Neck Neoplasms
Head and neck squamous cell ca...
Head neck and nervous system a...
Hearing impairment
Hearing impairment and inferti...
Hearing impairment bilateral s...
Hearing impairment nonsyndromi...
Hearing impairment nonsyndromi...
Hearing impairment nonsyndromi...
Hearing impairment postlingual
Hearing impairment with ear an...
Hearing loss
Hearing loss age-related
Hearing loss autosomal dominan...
Hearing loss autosomal recessi...
Hearing loss digenic non-syndr...
Hearing loss early-onset and l...
Hearing loss heart defects and...
Hearing loss microcephaly earl...
Hearing loss moderate progress...
Hearing loss non-syndromic
Hearing loss non-syndromic aut...
Hearing loss non-syndromic aut...
Hearing loss non-syndromic lat...
Hearing loss nonsyndromic prog...
Hearing loss non-syndromic pro...
Hearing loss non-syndromic sen...
Hearing loss progressive
Hearing loss progressive and d...
Hearing loss sensorineural
Hearing loss unilateral
Hearing loss with dilation of ...
Hearing loss X-linked nonsyndr...
Hearing loss X-linked & periph...
Heart block type 1
Heart central nervous system a...
Heart defects and diabetes per...
Heart disease
Heart failure
Heart, malformation of
Heart malformations
Heart valve defect
Heat lability hexosaminidase
Hecht syndrome
Heimler syndrome
Heimler syndrome 2
Heinz body anemia
HELIX syndrome
HELIX SYNDROME
Hemangioma, capillary infantil...
Hematologic neoplasm
Hemimegalencephaly
Hemiparesis right side & epile...
Hemiplegia
Hemiplegia infantile
Hemiplegic migraine
Hemiplegic migraine 2
Hemiplegic migraine 2 with feb...
Hemiplegic migraine/alternatin...
Hemiplegic migraine and epilep...
Hemochromatosis type 1
Hemochromatosis type 2A
Hemochromatosis type 2B
Hemochromatosis type 3
Hemochromatosis type 4
Hemoglobin, high altitude adap...
Hemoglobinopathy
Hemolytic anemia
HEMOLYTIC ANEMIA, CONGENITAL, ...
Hemolytic anemia due to hexoki...
Hemolytic anemia, nonspherocyt...
Hemolytic anemia, nonspherocyt...
Hemolytic disease of fetus OR ...
Hemolytic uremic syndrome asso...
Hemophagocytic lymphohistiocyt...
Hemophagocytic lymphohistiocyt...
Hemophagocytic lymphohistiocyt...
Hemophagocytic lymphohistiocyt...
Hemophilia A, FVIII Deficiency
Hemophilia B, Factor IX Defici...
Hemophilia b(m)
Hemorrhage, intracerebral, sus...
Hemorrhagic destruction of the...
Hennekam lymphangiectasia-lymp...
HENNEKAM LYMPHANGIECTASIA-LYMP...
Hennekam syndrome
Heparin cofactor 2 deficiency
Heparin cofactor II deficiency
Hepatic cysts
Hepatic cysts with ductal malf...
Hepatic disease
Hepatic failure, early-onset, ...
Hepatic failure & mitochondria...
Hepatic lipase deficiency
Hepatic methionine adenosyltra...
Hepatic venoocclusive disease ...
Hepatitis idiopathic neonatal
Hepatoblastoma
Hepatocellular carcinoma
Hepatocellular carcinoma early...
Hepatocellular injury drug-ind...
Hepatocerebral degeneration
Hepatoerythropoietic porphyria
Hepatomegaly/Cirrhosis/Liver f...
Hepatomegaly stepatohepatitis ...
Hepatosplenomegaly
Hepatosplenomegaly and cholest...
Hereditary Angioedema
Hereditary angioedema type 1
Hereditary angioneurotic edema
Hereditary breast and ovarian ...
Hereditary C1 esterase inhibit...
Hereditary cancer
Hereditary cancer-predisposing...
Hereditary Cancer Syndrome
Hereditary cerebral amyloid an...
Hereditary cerebral hemorrhage...
Hereditary congenital facial p...
Hereditary coproporphyria
Hereditary cutaneous melanoma
Hereditary diffuse gastric can...
Hereditary diffuse leukoenceph...
Hereditary Essential Tremor
Hereditary factor II deficienc...
Hereditary factor IX deficienc...
Hereditary factor VIII deficie...
Hereditary factor XI deficienc...
Hereditary factor XIII deficie...
Hereditary fructosuria
Hereditary haemorrhagic telang...
Hereditary haemorrhagic telang...
Hereditary hearing loss and de...
Hereditary hemochromatosis
Hereditary hemorrhagic telangi...
Hereditary hemorrhagic telangi...
Hereditary hemorrhagic telangi...
Hereditary insensitivity to pa...
Hereditary liability to pressu...
Hereditary lymphedema type I
Hereditary methemoglobinemia
Hereditary mixed polyposis syn...
Hereditary motor and sensory n...
Hereditary motor and sensory n...
Hereditary motor neuropathy
Hereditary motor neuropathy ty...
Hereditary motor & sensory neu...
Hereditary motor & sensory neu...
Hereditary motor & sensory neu...
Hereditary motor & sensory neu...
Hereditary Multiple Osteochond...
Hereditary nephrotic syndrome
Hereditary Neuralgic Amyotroph...
Hereditary neutrophilia
Hereditary nonpolyposis colon ...
Hereditary nonpolyposis colore...
Hereditary nonpolyposis colore...
Hereditary nonpolyposis colore...
Hereditary nonpolyposis colore...
Hereditary nonpolyposis colore...
Hereditary orotic aciduria, ty...
Hereditary pancreatitis
Hereditary Paraganglioma-Pheoc...
Hereditary persistence of foet...
Hereditary pyropoikilocytosis
Hereditary renal cell carcinom...
Hereditary sensory and autonom...
Hereditary sensory and autonom...
Hereditary sensory and autonom...
Hereditary sensory and autonom...
Hereditary sensory and autonom...
Hereditary sensory neuropathy ...
Hereditary sensory neuropathy ...
Hereditary sideroblastic anemi...
Hereditary spastic paraplegia
Hereditary spastic paraplegia ...
Hereditary spherocytosis
Heritable Thoracic Aortic Dise...
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome 1
Hermansky Pudlak syndrome 2
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 9
Hermaphroditism
Herpes simplex encephalitis
Herpes simplex encephalitis 1
Herpes simplex encephalitis, s...
Herpes simplex encephalitis, s...
Herpes simplex encephalitis UN...
Herpes simplex virus encephali...
Heterotaxia
Heterotaxy
Heterotaxy, visceral, 2, autos...
Heterotaxy, visceral, 4, autos...
Heterotaxy, visceral, 6, autos...
Heterotaxy, visceral, 7, autos...
Heterotaxy, visceral, X-linked
Heterotaxy with extra-cardiac ...
Heterotaxy with neurodevelopme...
Heterotaxy X-linked
Heterotopia
Heterotopia nodular
Heterotopia periventricular
Heterotopia, periventricular, ...
Heterotopia periventricular no...
Heterotopia ribbon-like
Hexokinase deficiency
HHH syndrome
HIBCH deficiency
Hidradenitis suppurativa
Hidrotic ectodermal dysplasia
Hidrotic ectodermal dysplasia ...
High bone mass
High bone mass trait
High dietary cholesterol absor...
Higher HDL cholesterol level
Higher plasma HDL cholesterol
Higher plasma triglyceride lev...
High HDL cholesterol
High LDL cholesterol
High myopia
High myopia early-onset (eoHM)
High myopia early-onset female...
High myopia late-onset (loHM)
High myopia non-syndromic
High palate
Hip dysplasia and spinal osteo...
Hip dysplasia Beukes type
Hirschsprung disease
Hirschsprung disease 1
Hirschsprung disease 2
Hirschsprung disease 3
Hirschsprung disease 4
Hirschsprung disease, cardiac ...
Hirschsprung disease ganglione...
Histidinaemia
Histidinemia
Histidine-rich glycoprotein de...
Histiocytic medullary reticulo...
Histiocytoid cardiomyopathy
Histiocytosis-lymphadenopathy ...
History of neurodevelopmental ...
HLA class I deficiency
HMG-CoA lyase deficiency
HNSHA due to aldolase A defici...
Hodgkin disease
Hodgkin lymphoma
Holocarboxylase synthetase def...
Holocarboxylase synthetase def...
Holocarboxylase synthetase def...
Holoprosencephaly
Holoprosencephaly 1
Holoprosencephaly 11
Holoprosencephaly 2
Holoprosencephaly 3
Holoprosencephaly 4
Holoprosencephaly 5
Holoprosencephaly 7
Holoprosencephaly alobar
Holoprosencephaly lobar
Holoprosencephaly & microcepha...
Holoprosencephaly microcephaly...
Holoprosencephaly sequence
Holt-Oram syndrome
Homocysteinemia due to MTHFR d...
Homocystinuria
Homocystinuria cblD type
Homocystinuria, cblD type, var...
Homocystinuria cblG type
Homocystinuria due to CBS defi...
Homocystinuria due to MTHFR de...
Homocystinuria MTHFR deficienc...
Homocystinuria, pyridoxine-res...
Horizontal nystagmus
Horseshoe kidney
Hot water epilepsy
Howel-Evans syndrome
Hoyeraal Hreidarsson syndrome
Hoyeraal-Hreidarsson syndrome
HSD10 disease
HSD17B10 deficiency
H syndrome
Human immunodeficiency virus t...
HUMEROFEMORAL HYPOPLASIA WITH ...
Huntington disease-like 1
Huntington-like disease
Hurler-Scheie syndrome
Hurler syndrome
Hurthle cell carcinoma of thyr...
Hutchinson-Gilford progeria sy...
Hutchinson-Gilford progeria sy...
Hutchinson-Gilford progeria sy...
Hutchinson-Gilford progeria sy...
Hutchinson-Gilford syndrome
Hyaline body myopathy
Hyaline fibromatosis syndrome
Hyalinosis infantile
Hydatidiform mole
Hydranencephaly with renal apl...
Hydrocephalus
Hydrocephalus, congenital, 2, ...
Hydrocephalus due to aqueducta...
Hydrocephalus MASA
Hydrocephalus X-linked
Hydrocephalus, X-linked, with ...
Hydrocephaly and dysgenesis of...
Hydrocephaly global developmen...
Hydronephrosis
Hydronephrosis congenital
Hydrops fetalis
Hydrops fetalis in diamond-bla...
Hydrops fetalis in hennekam ly...
Hydrops fetalis nonimmune
Hydrops fetalis, nonimmune, an...
Hydrops, lactic acidosis, and ...
Hydrops lactic acidosis sidero...
Hydroureter
Hydroxyglutaric aciduria combi...
Hydroxykynureninuria
Hydroxyprolinaemia
Hyperactivity
Hyperaldosteronism & early-ons...
Hyperaldosteronism, familial, ...
Hyperaldosteronism, familial, ...
Hyperaldosteronism type II
Hyperaldosteronism type III
Hyperalphalipoproteinaemia
Hyperalphalipoproteinemia 1
Hyperalphalipoproteinemia 2
Hyperammonaemia
Hyperammonaemic encephalopathy...
Hyperammonemia, type III
Hyperandrogenism
Hyperandrogenism, nonclassic t...
Hyperapobetalipoproteinemia
Hyperargininaemia
Hyperbilirubinaemia unconjugat...
Hyperbilirubinemia
Hypercalcaemia
Hypercalcaemia hypocalciuric
Hypercalcaemia hypocalciuric &...
Hypercalcaemia hypocalciuric t...
Hypercalcaemia hypocalciuric t...
Hypercalcaemia idiopathic infa...
Hypercalcaemia increased risk
Hypercalcaemia infantile
Hypercalcemia, infantile, 2
Hypercalciuria
Hypercalciuria, childhood, sel...
Hypercalciuria hypocalcaemic
Hypercalciuria & hypomagnesaem...
Hypercalciuric nephrolithiasis
Hypercarotenemia and hypovitam...
Hypercarotenemia and vitamin a...
Hypercatabolic hypoproteinaemi...
Hyperchlorhidrosis
Hyperchlorhidrosis, isolated
Hypercholanaemia
Hypercholanemia
Hypercholanemia, familial
Hypercholesterolaemia
Hypercholesterolaemia autosoma...
Hypercholesterolaemia autosoma...
Hypercholesterolaemia modifier...
HyperCKemia
HyperCKemia & muscular dystrop...
Hyperekplexia
Hyperekplexia 1
Hyperekplexia 2
Hyperekplexia 3
Hyperekplexia and epilepsy
Hyperekplexia and mental retar...
Hyperekplexia and refractory s...
Hyperekplexia with weird laugh...
Hypereosinophilic syndrome, id...
Hyperextensibility of the fing...
Hyperferritinaemia
Hyperferritinemia cataract syn...
Hyperglucagonaemia and alpha c...
Hyperglycaemia
Hyperglycaemia insulin-respons...
Hyperglycemia
Hyperglycinaemia non-ketotic
Hyperglycinuria
Hypergonadotropic hypogonadism
Hypergonadotropic ovarian fail...
Hyperhomocysteinaemia
Hyper-IgD periodic fever syndr...
Hyper-IgD periodic fever syndr...
Hyper-IgE recurrent infection ...
HYPER-IgE RECURRENT INFECTION ...
Hyper-IgE syndrome
Hyper-IgE syndrome autosomal r...
Hyper-IgE syndrome with impair...
Hyper-IgM syndrome
Hyper-IgM syndrome autosomal d...
Hyper-IgM syndrome type 2
Hyperimmunoglobulin D syndrome
Hyperimmunoglobulin D with per...
Hyperimmunoglobulin E recurren...
Hyperimmunoglobulin M syndrome
Hyperinsulinaemia
Hyperinsulinaemic hypoglycaemi...
Hyperinsulinaemic hypoglycaemi...
Hyperinsulinemia
Hyperinsulinemic hypoglycemia,...
Hyperinsulinemic hypoglycemia ...
Hyperinsulinemic hypoglycemia,...
Hyperinsulinism
Hyperinsulinism and hypopituit...
Hyperinsulinism diffuse congen...
Hyperinsulinism, Dominant
Hyperinsulinism due to HNF4A d...
Hyperinsulinism focal congenit...
Hyperinsulinism hyperammonaemi...
Hyperinsulinism-hyperammonemia...
Hyperinsulinism & hypopituitar...
Hyperinsulinism of infancy
Hyperkalaemic hypertension
Hyperkalaemic periodic paralys...
Hyperkalemic Periodic Paralysi...
Hyperkinesia
Hyperlipidaemia
Hyperlipidaemia 3
Hyperlipidaemia & retinitis pi...
Hyperlipidaemia with pancreati...
Hyperlipoproteinaemia
Hyperlipoproteinaemia I
Hyperlipoproteinemia, type I
Hyperlysinaemia
Hyperlysinemia
Hypermelanotic macule
Hypermethioninaemia
Hypermethioninaemia with S-ade...
Hypermethioninemia
Hypermethioninemia due to aden...
Hypermethioninemia with s-aden...
Hyperornithinemia-hyperammonem...
Hyperostosis-hyperphosphatemia...
Hyperoxaluria
Hyperoxaluria II
Hyperoxaluria II and atypical ...
Hyperoxaluria primary type I
Hyperoxaluria primary type III
Hyperparathyroidism
Hyperparathyroidism 1
Hyperparathyroidism-jaw tumour...
Hyperparathyroidism neonatal p...
Hyperparathyroidism primary
Hyperphagia and obesity early ...
Hyperphalangism facial anomali...
Hyperphenylalaninaemia
Hyperphenylalaninaemia benign
Hyperphenylalaninaemia dystoni...
Hyperphenylalaninaemia mild
Hyperphenylalaninemia, bh4-def...
Hyperphenylalaninemia, BH4-def...
Hyperphenylalaninemia, mild, n...
Hyperphenylalaninemia, non-pku
Hyperphosphatasemia with bone ...
Hyperphosphatasia-intellectual...
Hyperphosphatasia mental retar...
Hyperphosphatasia with mental ...
Hyperphosphatasia with mental ...
Hyperphosphatasia with mental ...
Hyperphosphatemic familial tum...
Hyperproinsulinaemia
Hyperproinsulinemia
Hyperprolactinaemia
Hyperprolactinemia
Hyperprolinaemia
Hyperprolinaemia 2
Hyperprolinemia
Hyperreflexia
Hypertelorism
Hypertelorism, Teebi type
Hypertension
Hypertension & brachydactyly s...
Hypertension dominant with bra...
Hypertension, early-onset, aut...
Hypertension early onset exace...
Hypertension hypokalemic
Hyperthermia fatal infantile
Hyperthermia malignant
Hyperthyroidism, familial gest...
Hyperthyroidism gestational
Hyperthyroxinemia, dysalbumine...
Hyperthyroxinemia, familial dy...
Hypertonia & seizures neonatal...
Hypertransaminasaemia myopathy...
Hypertransaminasaemia persiste...
Hypertrichosis and acromegaloi...
Hypertrichotic osteochondrodys...
Hypertriglyceridaemia
Hypertriglyceridemia, transien...
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy an...
Hypertrophic cardiomyopathy ch...
Hypertrophic cardiomyopathy ea...
Hypertrophic cardiomyopathy fa...
Hypertrophic cardiomyopathy fa...
Hypertrophic cardiomyopathy & ...
Hypertrophic cardiomyopathy la...
Hypertrophic cardiomyopathy la...
Hypertrophic cardiomyopathy my...
Hypertrophic cardiomyopathy re...
Hypertrophic cardiomyopathy wi...
Hypertrophic osteoarthropathy ...
Hypertrophic osteoarthropathy ...
Hypertrophy left ventricular
Hypertrophy moderate
Hypertrypsinaemia low sweat ch...
Hypertrypsinaemia neonatal
Hypertryptophanemia
Hypertryptophanemia, familial
Hypertyrosinemia
Hyperuricaemia
Hyperuricaemia developmental d...
Hyperuricaemia HPRT1-related
Hyperuricaemia with neurologic...
Hyperuricaemia without neurolo...
Hyperuricaemic nephropathy
Hyperuricaemic nephropathy juv...
Hyperuricemia pulmonary hypert...
Hyperuricemia, pulmonary hyper...
Hyperuricemic nephropathy, fam...
Hyperuricemic nephropathy, fam...
Hypervalinaemia & hyperleucine...
Hypoadiponectinaemia
Hypoadiponectinemia
Hypoaldosteronism
Hypoalphalipoproteinaemia
Hypobetalipoproteinaemia
Hypobetalipoproteinemia, famil...
Hypocalcaemia
Hypocalcaemia adrenal hyperpla...
Hypocalcaemia autosomal domina...
Hypocalcaemia type 2 autosomal...
Hypocalcaemia with hypercalciu...
Hypocalcemia
Hypocalcemia, autosomal domina...
Hypocalcemia, autosomal domina...
Hypocalcemia, autosomal domina...
Hypocalciuric hypercalcemia, f...
Hypocalciuric hypercalcemia, f...
Hypocalciuric hypercalcemia, f...
Hypochloraemic alkalosis
Hypocholesterolaemia
Hypocholinesterasaemia
Hypochondrogenesis
Hypochondroplasia
Hypochromic microcytic anaemia...
Hypodontia
Hypodontia non-syndromic
Hypodysfibrinogenaemia
Hypodysfibrinogenemia
Hypofibrinogenaemia
Hypofibrinogenaemia with hepat...
Hypofibrinogenemia
Hypogammaglobulinaemia early-o...
Hypoglycaemia
Hypoglycaemia hepatopathy and ...
Hypoglycaemia hyperinsulinaemi...
Hypoglycaemia macrocephaly dev...
Hypoglycaemia persistent hyper...
Hypoglycemia
Hypoglycemia with deficiency o...
Hypogonadism
Hypogonadism male
Hypogonadism with anosmia
Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypogonadotropic hypogonadism ...
Hypohidrotic Ectodermal Dyspla...
Hypohidrotic Ectodermal Dyspla...
Hypohidrotic X-linked ectoderm...
Hypoinsulinemic hypoglycemia a...
Hypokalaemia & hypermagnesaemi...
Hypokalaemic periodic paralysi...
Hypokalaemic periodic paralysi...
Hypokalaemic periodic paralysi...
Hypokalaemic periodic paralysi...
Hypokalemic periodic paralysis...
Hypokalemic periodic paralysis...
Hypokinetic-hypotonic syndrome...
Hypokinetic non-dilated cardio...
Hypomagnesaemia and epileptic ...
Hypomagnesaemia renal
Hypomagnesaemia with hypercalc...
Hypomagnesaemia with secondary...
Hypomagnesemia
Hypomagnesemia 1, intestinal
Hypomagnesemia 4, renal
Hypomagnesemia 5, renal, with ...
Hypomagnesemia 6, renal
Hypomagnesemia hypercalciuria ...
Hypomagnesemia isolated
Hypomagnesemia renal failure &...
Hypomagnesemia, seizures, and ...
Hypomagnesemia & tetany
Hypomaturation amelogenesis im...
Hypomaturation enamel defects
Hypomethylation of imprinted l...
Hypomimic face
Hypomyelinating central nervou...
Hypomyelinating leukodystrophy
Hypomyelinating leukodystrophy...
Hypomyelinating leukodystrophy...
Hypomyelinating leukodystrophy...
Hypomyelinating leukodystrophy...
Hypomyelinating leukodystrophy...
Hypomyelinating neuropathy
Hypomyelination
Hypomyelination and Congenital...
Hypomyelination cerebellar atr...
Hypomyelination & congenital c...
Hypomyelination, global cerebr...
Hypomyelination hypodontia & h...
Hypomyelination hypodontia & h...
Hypomyelination with atrophy o...
Hypomyelination with brain ste...
Hypomyelination with brainstem...
Hypomyelination with cerebella...
Hyponatraemia precocious puber...
Hyponatremia hypokalemia hypoc...
Hypoparathyroidism
Hypoparathyroidism and deafnes...
Hypoparathyroidism autosomal d...
Hypoparathyroidism deafness an...
Hypoparathyroidism familial is...
Hypoparathyroidism & hypocalca...
Hypoparathyroidism infantile-o...
Hypoparathyroidism retardation...
Hypophosphataemia
Hypophosphataemia dental anoma...
Hypophosphataemia & nephrocalc...
Hypophosphataemia X-linked
Hypophosphataemic nephrolithia...
Hypophosphatasia
Hypophosphatemic Nephrolithias...
Hypophosphatemic Rickets, Rece...
Hypophosphatemic rickets, X-li...
HYPOPIGMENTATION, ORGANOMEGALY...
Hypopituitarism
Hypopituitarism glucose dysreg...
Hypopituitarism with pituitary...
Hypoplastic enamel-onycholysis...
Hypoplastic left heart syndrom...
Hypoplastic left heart syndrom...
Hypoplastic left heart with re...
Hypoprebetalipoproteinemia, ac...
Hypoproteinemia, hypercataboli...
Hypospadias
Hypospadias 1, X-linked
Hypospadias and cryptorchidism
Hypospadias non-syndromic
Hypospadias, penile
Hypothalamic amenorrhea
Hypothalamo-pituitary-gonadal ...
Hypothyroidism
Hypothyroidism and goiter
Hypothyroidism and neonatal re...
Hypothyroidism, central, and t...
Hypothyroidism, congenital, no...
Hypothyroidism, congenital, no...
Hypothyroidism, congenital, no...
HYPOTHYROIDISM, CONGENITAL, NO...
HYPOTHYROIDISM, CONGENITAL, NO...
Hypothyroidism early onset non...
Hypothyroidism subclinical
Hypothyroidism, thyroidal, wit...
Hypothyroidism transient
Hypothyroidism with enlarged v...
Hypotonia and encephalopathy
Hypotonia and neurodevelopment...
Hypotonia & apnoea
Hypotonia, ataxia, and delayed...
Hypotonia axial
Hypotonia deafnessfeeding diff...
Hypotonia developmental delay ...
Hypotonia developmental delay ...
Hypotonia dyskinesia & sensori...
Hypotonia early-onset epilepti...
Hypotonia epilepsy development...
HYPOTONIA, HYPOVENTILATION, IM...
Hypotonia, infantile, with psy...
Hypotonia intellectual disabil...
Hypotonia intellectual disabil...
Hypotonia & leukodystrophy
Hypotonia microcephaly and glo...
Hypotonia motor delay absent d...
Hypotonia & muscle weakness
Hypotonia muscle weakness moto...
Hypotonia myoclonus & apnoea
Hypotonia & seizures
Hypotonia seizures and develop...
Hypotonia seizures and encepha...
Hypotonia seizures & developme...
Hypotonia severe neonatal and ...
Hypotonia weakness delayed mil...
Hypotonia with infantile spasm...
Hypotony cardiomyopathy and co...
Hypotony motor development ret...
Hypotony seizures and suspicio...
Hypotony sideroblastic anaemia...
Hypotransferrinemia
Hypotrichosis
Hypotrichosis 11
Hypotrichosis 12
Hypotrichosis 13
HYPOTRICHOSIS 14
Hypotrichosis 3
Hypotrichosis 6
Hypotrichosis 7
Hypotrichosis 8
Hypotrichosis and nail dystrop...
Hypotrichosis-lymphedema-telan...
Hypotrichosis-Lymphoedema-Tela...
Hypotrichosis/monilethrix
Hypotrichosis simplex
Hypotrichosis simplex autosoma...
Hypotrichosis with juvenile ma...
Hypotrichosis with keratosis f...
Hypotrichosis with woolly hair
Hypotrichosis / woolly hair
Hypouricaemia juvenile-onset
Hypouricaemia renal
Hypouricaemia renal type 1
Hypouricaemia renal with Fanco...
Hypoxanthine guanine phosphori...
IBMPFD / Amyotrophic lateral s...
I cell disease
Ichthyosiform erythroderma con...
Ichthyosiform erythroderma con...
Ichthyosiform erythroderma cor...
Ichthyosiform erythroderma non...
Ichthyosis
Ichthyosis autosomal recessive
Ichthyosis autosomal recessive...
Ichthyosis bathing suit
Ichthyosis bullosa of Siemens
Ichthyosis bullosa Siemens
Ichthyosis congenital autosoma...
Ichthyosis, congenital, autoso...
ICHTHYOSIS, CONGENITAL, AUTOSO...
ICHTHYOSIS, CONGENITAL, AUTOSO...
Ichthyosis, cyclic, with epide...
Ichthyosis failure to thrive &...
Ichthyosis follicularis sensor...
Ichthyosis harlequin & thrombo...
Ichthyosis hystrix Lambert typ...
Ichthyosis keratinopathic
Ichthyosis lamellar
Ichthyosis prematurity syndrom...
Ichthyosis with confetti
Ichthyosis with epidermolytic ...
Ichthyosis X-linked with short...
ICHTHYOTIC KERATODERMA, SPASTI...
Ichthyotic keratoderma spastic...
Icthyosis
Icthyosis-hypotrichosis syndro...
Idiopathic azoospermia
Idiopathic basal ganglia calci...
Idiopathic basal ganglia calci...
Idiopathic eosinophilic myosit...
Idiopathic epilepsy generalise...
Idiopathic fibrosing alveoliti...
Idiopathic generalized epileps...
Idiopathic hypercalcemia of in...
Idiopathic hypospadias
Idiopathic livedo reticularis ...
Idiopathic nephrotic syndrome
Idiopathic transverse myelitis
IFAP syndrome with or without ...
IFNGR1 deficiency
IgA nephropathy
IgA nephropathy, susceptibilit...
IGSF1 deficiency syndrome
IL12RB1 deficiency
IL-17RA deficiency with bacter...
IL21R deficiency
IL21R immunodeficiency
IL2-inducible T-cell kinase de...
IMAGE syndrome
Imerslund-Gräsbeck syndrome
Immune deficiency combined and...
Immune deficiency early-onset ...
Immune deficiency-related ente...
Immune dysfunction with T-cell...
Immune dysregulation autosomal...
Immune thrombocytopaenia
Immunodeficiency
Immunodeficiency 12
Immunodeficiency 13
Immunodeficiency 14
Immunodeficiency 15
IMMUNODEFICIENCY 15A
Immunodeficiency 16
Immunodeficiency 17
Immunodeficiency 18
Immunodeficiency 19
Immunodeficiency 22
Immunodeficiency 23
Immunodeficiency 24
Immunodeficiency 26 with or wi...
Immunodeficiency 26 without ne...
Immunodeficiency 28
Immunodeficiency 29
Immunodeficiency 30
Immunodeficiency 31a
Immunodeficiency 31C
Immunodeficiency 32a
Immunodeficiency 32b
Immunodeficiency 37
Immunodeficiency 38 with basal...
Immunodeficiency 39
Immunodeficiency 40
Immunodeficiency 42
Immunodeficiency 44
Immunodeficiency 47
Immunodeficiency 49
Immunodeficiency 50
Immunodeficiency 51
IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 58
IMMUNODEFICIENCY 60
Immunodeficiency 8
Immunodeficiency affecting cel...
Immunodeficiency and autoimmun...
Immunodeficiency and craniosyn...
Immunodeficiency and hepatopat...
Immunodeficiency anhidrotic ec...
Immunodeficiency autosomal dom...
Immunodeficiency autosomal rec...
Immunodeficiency centromeric i...
Immunodeficiency centromeric i...
Immunodeficiency centromeric i...
Immunodeficiency-centromeric i...
Immunodeficiency-centromeric i...
Immunodeficiency-centromeric i...
Immunodeficiency combined
Immunodeficiency combined with...
Immunodeficiency combined with...
Immunodeficiency common variab...
Immunodeficiency, common varia...
IMMUNODEFICIENCY, COMMON VARIA...
Immunodeficiency common variab...
Immunodeficiency common variab...
Immunodeficiency common variab...
IMMUNODEFICIENCY, DEVELOPMENTA...
Immunodeficiency due to defect...
Immunodeficiency due to defect...
Immunodeficiency due to ficoli...
Immunodeficiency late-onset
Immunodeficiency primary
Immunodeficiency primary B-cel...
Immunodeficiency severe combin...
Immunodeficiency severe combin...
Immunodeficiency severe combin...
Immunodeficiency severe combin...
Immunodeficiency severe combin...
Immunodeficiency severe combin...
Immunodeficiency squamous cell...
Immunodeficiency T cell -ve
Immunodeficiency with hyper-Ig...
Immunodeficiency with Hyper-Ig...
Immunodeficiency with hyper Ig...
Immunodeficiency with hyper Ig...
Immunodeficiency with hyper Ig...
Immunodeficiency with hyper Ig...
Immunodeficiency with microcep...
Immunodeficiency X-linked
Immunodeficiency, X-Linked, wi...
Immunoglobulin A deficiency 2
Immunoskeletal dysplasia with ...
Impaired ADP-induced platelet ...
Impaired B cell maturation
Impaired cardioprotective effe...
Impaired DNA repair
Impaired lecithin:cholesterol ...
Impaired mycobacterial immunit...
Impaired right ventricular fun...
Impaired thromboxane A2 agonis...
Imperforate anus
Improved plasma triglyceride c...
Inappropriate sinus tachycardi...
Inborn error of cobalamin meta...
Inborn error of metabolism
Inborn error of vitamin B12 me...
Inborn errors of immunity
Inborn errors of metabolism
Inborn genetic diseases
Inclusion body myopathy
Inclusion body myopathy 2
Inclusion body myopathy 3
Inclusion Body Myopathy, Domin...
Inclusion body myopathy & page...
Inclusion body myopathy with e...
Inclusion body myopathy with e...
Inclusion body myopathy with e...
Inclusion body myopathy with P...
Inclusion body myositis
Increased activity
Increased bleeding tendency
Increased cholesterol transfer...
Increased glucocorticoid sensi...
Increased Hb F levels
Increased HDL cholesterol leve...
Increased left ventricular wal...
Increased nuchal translucency ...
Increased plasma HDL cholester...
Increased proapo A-1 concentra...
Increased proline level in sch...
Increased serum ACE concentrat...
Increased total cholesterol
INFANTILE CATARACT, SKIN ABNOR...
Infantile cerebellar-retinal d...
Infantile convulsions and paro...
Infantile convulsions paroxysm...
Infantile convulsions with par...
Infantile cortical hyperostosi...
Infantile encephalopathy
Infantile epilepsy cataracts a...
Infantile epilepsy with severe...
Infantile focal seizures ataxi...
Infantile GM1 gangliosidosis
Infantile hepatopathy
Infantile hypercalcemia
Infantile hypertrophic pyloric...
Infantile liver failure increa...
Infantile liver failure syndro...
Infantile mitochondrial diseas...
Infantile mitochondrial diseas...
Infantile mitochondrial disord...
Infantile mitochondrial disord...
Infantile mitochondrial enceph...
Infantile myofibromatosis
Infantile myofibromatosis 1
Infantile myofibromatosis 2
Infantile nephronophthisis
Infantile neuroaxonal dystroph...
Infantile neuroaxonal dystroph...
Infantile neuroaxonal dystroph...
Infantile Nystagmus
Infantile nystagmus, X-linked
Infantile Refsum disease
Infantile seizures
Infantile seizures benign
Infantile spasms
Infantile spasms and intellect...
Infantile spasms intractable e...
Infantile spasms with intellec...
Infantile spasms with intellec...
Infantile spasm with global de...
Infections, recurrent, associa...
Infections, recurrent, with en...
Infertility associated with mu...
Infertility female
Infertility male
Infertility, male and female
Infiltrating duct carcinoma of...
Inflammatory bowel disease
Inflammatory bowel disease 1
Inflammatory bowel disease 25,...
Inflammatory bowel disease 28
Inflammatory bowel disease 28,...
Inflammatory bowel disease & B...
Inflammatory bowel disease ear...
Inflammatory bowel disease inf...
Inflammatory bowel disease neo...
Inflammatory bowel disease sev...
Inflammatory bowel disease ver...
Inflammatory bowel disease ver...
Inflammatory demyelinating neu...
Inflammatory disease
Inflammatory myopathy
Inflammatory skin and bowel di...
Inflammatory skin and bowel di...
Inflammatory vitreoretinopathy...
Influenza virus infection
Inguinal hernia
Inherited bone marrow failure ...
Inner retinal dystrophy
Inosine triphosphatase deficie...
Insensitivity to mifepristone
Insomnia
Instability of lissencephaly p...
Insulin-dependent diabetes mel...
Insulin-like growth factor 1 r...
Insulin-like growth factor def...
Insulin-like growth factor I d...
Insulinoma
Insulinomatosis
Insulin resistance
Insulin resistance A
Insulin resistance diabetes an...
Insulin resistance syndrome ty...
Insulin-resistant diabetes mel...
Insulin-resistant diabetes mel...
Insulin-resistant diabetes mel...
intellectual deficiency
Intellectual deficit cerebella...
INTELLECTUAL DEVELOPMENTAL DIS...
INTELLECTUAL DEVELOPMENTAL DIS...
INTELLECTUAL DEVELOPMENTAL DIS...
INTELLECTUAL DEVELOPMENTAL DIS...
Intellectual developmental dis...
INTELLECTUAL DEVELOPMENTAL DIS...
Intellectual developmental dis...
Intellectual developmental dis...
INTELLECTUAL DEVELOPMENTAL DIS...
INTELLECTUAL DEVELOPMENTAL DIS...
INTELLECTUAL DEVELOPMENTAL DIS...
INTELLECTUAL DEVELOPMENTAL DIS...
Intellectual developmental dis...
INTELLECTUAL DEVELOPMENTAL DIS...
INTELLECTUAL DEVELOPMENTAL DIS...
Intellectual disability
Intellectual disability & acra...
Intellectual disability and au...
Intellectual disability and ce...
Intellectual disability and ci...
Intellectual disability and de...
Intellectual disability and de...
Intellectual disability and de...
Intellectual disability and dy...
Intellectual disability and dy...
Intellectual disability and ep...
Intellectual disability and ep...
Intellectual disability and ep...
Intellectual disability and hy...
Intellectual disability and ma...
Intellectual disability and mi...
Intellectual disability and mi...
Intellectual disability and ne...
Intellectual disability and re...
Intellectual disability and se...
Intellectual disability and se...
Intellectual disability and sp...
Intellectual disability and sp...
Intellectual disability ataxia...
Intellectual disability ataxia...
Intellectual disability atroph...
Intellectual disability autism...
Intellectual disability/Autism...
Intellectual disability autism...
Intellectual disability autism...
Intellectual disability autism...
Intellectual disability autist...
Intellectual disability autist...
Intellectual disability & auti...
Intellectual disability autist...
Intellectual disability autoso...
Intellectual disability & beha...
Intellectual disability brachy...
Intellectual disability brain ...
Intellectual disability brain ...
Intellectual disability brain ...
Intellectual disability cerebe...
Intellectual disability & cere...
Intellectual disability cerebr...
Intellectual disability delaye...
Intellectual disability delaye...
Intellectual disability / deve...
Intellectual disability/develo...
Intellectual disability/develo...
Intellectual disability develo...
Intellectual disability develo...
Intellectual disability develo...
Intellectual disability/develo...
Intellectual disability/develo...
Intellectual disability/develo...
Intellectual disability/develo...
Intellectual disability develo...
Intellectual disability / deve...
Intellectual disability develo...
Intellectual disability develo...
Intellectual disability/develo...
Intellectual disability develo...
Intellectual disability/develo...
Intellectual Disability, Domin...
Intellectual disability/Dysmor...
Intellectual disability dysmor...
Intellectual disability dysmor...
Intellectual disability dysmor...
Intellectual disability & dyst...
Intellectual disability early-...
Intellectual disability & epil...
Intellectual disability epilep...
Intellectual disability epilep...
Intellectual disability epilep...
Intellectual disability epilep...
Intellectual disability epilep...
Intellectual disability epilep...
Intellectual disability epilep...
Intellectual disability & faci...
Intellectual disability facial...
Intellectual disability facial...
Intellectual disability focal ...
Intellectual disability growth...
Intellectual disability & hypo...
Intellectual disability hypoto...
Intellectual disability/Inborn...
Intellectual disability intrac...
Intellectual disability langua...
Intellectual disability & micr...
Intellectual disability microc...
Intellectual disability microc...
Intellectual disability microc...
Intellectual disability microc...
Intellectual disability microc...
Intellectual disability microc...
Intellectual disability microc...
Intellectual disability microc...
Intellectual disability microc...
Intellectual disability microc...
Intellectual disability microc...
Intellectual disability mild
Intellectual disability, mild
Intellectual disability, moder...
Intellectual disability moveme...
Intellectual disability non-sy...
Intellectual disability nonsyn...
Intellectual disability nonsyn...
Intellectual disability nonsyn...
Intellectual disability nonsyn...
Intellectual disability & obes...
Intellectual disability, profo...
Intellectual Disability, Reces...
Intellectual disability reduce...
Intellectual disability & seiz...
Intellectual disability & seiz...
Intellectual disability seizur...
Intellectual disability seizur...
Intellectual disability seizur...
Intellectual disability seizur...
Intellectual disability seizur...
Intellectual disability & self...
Intellectual disability severe
Intellectual disability severe...
Intellectual disability severe...
Intellectual disability severe...
Intellectual disability severe...
Intellectual disability short ...
Intellectual disability short ...
Intellectual disability short ...
Intellectual disability short ...
Intellectual disability short ...
Intellectual disability spasti...
Intellectual disability speech...
Intellectual disability Spinal...
Intellectual disability syndro...
Intellectual disability syndro...
Intellectual disability syndro...
Intellectual disability syndro...
Intellectual disability & thy...
Intellectual disability & Troy...
Intellectual disability with c...
Intellectual disability with e...
Intellectual disability with f...
Intellectual disability with g...
Intellectual Disability with L...
Intellectual disability with L...
Intellectual disability with m...
Intellectual disability with m...
Intellectual disability with n...
Intellectual disability with o...
Intellectual disability withou...
Intellectual disability with o...
Intellectual disability with p...
Intellectual disability with p...
Intellectual disability with p...
Intellectual disability with s...
Intellectual disability with s...
Intellectual disability with s...
Intellectual disability with s...
Intellectual disability X-link...
Intellectual disability X-link...
Intellectual disability X-link...
Intellectual disability X-link...
Intellectual disability X-link...
Intellectual disability X-link...
Intellectual disability & youn...
Intellectual functioning disab...
Intellectual performance impai...
Interferon gamma receptor defi...
Interleukin 2 receptor, alpha,...
Intermediate maple syrup urine...
Interstitial lung and liver di...
Interstitial lung and liver di...
Interstitial lung disease
Interstitial lung disease chil...
Interstitial lung disease neph...
Interstitial lung disease, nep...
Interstitial nephritis, karyom...
Interstitial pneumonitis
Intervertebral disc disorder
Intestinal pseudo-obstruction
Intracerebral haemorrhage
Intracerebral haemorrhage foet...
Intracerebral haemorrhage foet...
Intracerebral haemorrhage late...
Intracerebral haemorrhage & le...
Intracranial aneurysm
Intracranial calcification
Intracranial thrombosis and ha...
intractable epilepsy
Intractable epilepsy and intel...
Intractable epilepsy and neuro...
Intractable epilepsy childhood...
Intractable epilepsy involunta...
Intrahepatic cholangiocarcinom...
Intrahepatic cholestasis benig...
Intrahepatic cholestasis famil...
Intrahepatic cholestasis famil...
Intrahepatic cholestasis famil...
Intrahepatic cholestasis famil...
Intrahepatic cholestasis famil...
Intrahepatic cholestasis Green...
Intrahepatic cholestasis neona...
Intrahepatic cholestasis neona...
Intrahepatic cholestasis of pr...
Intra-mitochondrial methylatio...
Intranuclear rod myopathy
Intraocular melanoma
Intrauterine growth restrictio...
Intrauterine growth retardatio...
Intrauterine growth retardatio...
Intrauterine stroke & anterior...
Intrinsic factor deficiency
Iodide organification defect
Iodide transport defect
Iodotyrosine deiodination defe...
Iodotyrosyl coupling defect
IPEX-like syndrome
IPEX syndrome
IRAK4 deficiency
IRF9 deficiency
Irido-corneo-trabecular dysgen...
Iridogoniodysgenesis, dominant...
Iridogoniodysgenesis syndrome
Iris anomaly
Iris hypoplasia
Iron accumulation in brain
Iron deficiency anaemia
Iron overload
Iron Overload
Iron overload disease ferropor...
Iron-refractory iron deficienc...
Irritable bowel syndrome susce...
Ischemic stroke
Ischiopatellar dysplasia
Islet cell adenomatosis
Islet cell hyperplasia
Isobutyryl-CoA dehydrogenase d...
Isolated 17,20-lyase deficienc...
Isolated anophthalmia-micropht...
Isolated aortic dilation witho...
Isolated central hypothyroidis...
Isolated Complex I deficiency
Isolated congenital asplenia
Isolated distal myopathy of up...
Isolated eyelid closure myoton...
isolated follicle-stimulating ...
Isolated GnRH Deficiency
Isolated growth hormone defici...
Isolated growth hormone defici...
ISOLATED GROWTH HORMONE DEFICI...
ISOLATED GROWTH HORMONE DEFICI...
Isolated hyperCKaemia
Isolated hypomyelination
Isolated lutropin deficiency
Isolated nail dysplasia
Isovaleryl-CoA dehydrogenase d...
Jackson-Weiss syndrome
Jakob-Creutzfeldt disease
Jalili syndrome with muscular ...
Jankovic Rivera syndrome
Jarcho-Levin syndrome
Jaundice
Jervell and Lange-Nielsen synd...
Jeune asphyxiating thoracic dy...
Jeune-like syndrome
Jeune syndrome
Jeune thoracic dystrophy
JK-null variant
JMP syndrome
Joint hypermobility
Joint laxity
Joubert-like syndrome
Joubert syndrome
Joubert syndrome 1
Joubert syndrome 10
Joubert syndrome 12/15, digeni...
Joubert syndrome 15
Joubert syndrome 18
Joubert syndrome 2
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 25
Joubert syndrome 27
Joubert syndrome 3
JOUBERT SYNDROME 31
JOUBERT SYNDROME 32
JOUBERT SYNDROME 33
JOUBERT SYNDROME 35
Joubert syndrome 4
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome 9/15, digenic
Joubert Syndrome and Related D...
Joubert syndrome Senior-Loken ...
Joubert syndrome with cleft pa...
Joubert syndrome with nephropa...
Junctional epidermolysis bullo...
Juvenile absence epilepsy
Juvenile hemochromatosis
Juvenile idiopathic arthritis
Juvenile idiopathic arthritis ...
Juvenile macular degeneration ...
Juvenile myelomonocytic leukem...
Juvenile myoclonic and general...
Juvenile myoclonic epilepsy
Juvenile myopathy, encephalopa...
Juvenile nephropathic cystinos...
Juvenile neuronal ceroid lipof...
Juvenile-onset dystonia
Juvenile onset psychosis
Juvenile polyposis and heredit...
Juvenile polyposis coli
Juvenile polyposis/hereditary ...
Juvenile polyposis syndrome
Juvenile retinoschisis
Juvenile vitelliform macular d...
J-wave syndrome with sudden ca...
Kabuki-like syndrome
Kabuki syndrome
Kabuki syndrome 1
Kabuki syndrome 2
Kahrizi syndrome
Kallikrein deficiency
Kallmann syndrome
Kallmann syndrome 1
Kallmann syndrome 2
Kallmann syndrome 3
Kallmann syndrome 6
Kallmann syndrome reversible
Kallmann syndrome with cleft l...
Kallmann syndrome with deafnes...
Kallmann syndrome without deaf...
Kanzaki disease
Kaposi sarcoma
Karak syndrome
Kartagener syndrome
Karyomegalic interstitial neph...
KAT6B-Related Spectrum Disorde...
Kaufman oculocerebrofacial syn...
KCNQ2-Related Disorders
Kearns-Sayre syndrome
Keloid formation
Keloids
Kennedy pathway disorder neuro...
Kenny-Caffey syndrome
Keratitis fugax hereditaria
Keratitis-ichthyosis-deafness ...
Keratoconus
Keratoconus 1
Keratoconus & Fuchs endothelia...
Keratocystic odontogenic tumou...
Keratoderma diffuse palmoplant...
Keratoderma epidermolytic palm...
Keratoderma epidermolytic palm...
Keratoderma focal palmoplantar
Keratoderma-hypotrichosis-leuk...
Keratoderma non-epidermolytic ...
Keratoderma palmoplantar
Keratoderma palmoplantar Bothn...
Keratoderma palmoplantar deafn...
Keratoderma palmoplantar diffu...
Keratoderma palmoplantar punct...
Keratoderma palmoplantar punct...
Keratoderma palmoplantar & thr...
Keratoderma & woolly hair
Keratoendotheliitis fugax here...
Keratosis follicularis
Keratosis pilaris
Keratosis pilaris atrophicans
Kernicterus acute
Ketoacidosis ketogenic stress-...
Keutel syndrome
KHAN-KHAN-KATSANIS SYNDROME
Kidney and urinary tract abnor...
Kidney Carcinoma
Kidney disease
Kidney disease tubulo-intersti...
Kindler syndrome
Klatskin tumor
Kleefstra syndrome
Kleefstra syndrome 1
Klein-Waardenberg syndrome
Klippel Feil syndrome
Klippel-Feil syndrome
Klippel-Feil syndrome 1, autos...
Klippel-Feil syndrome 3, autos...
Kniest dysplasia
Knobloch syndrome 1
Knuckle pads, deafness AND leu...
Knuckle pads hyperkeratosis an...
Knuckle pads leukonychia senso...
Kohlschutter syndrome
Kohlschütter-Tönz syndrome
Koolen-de Vries syndrome
Kosaki overgrowth syndrome
Kowarski syndrome
Kufor-Rakeb syndrome
Kufs disease
Kufs disease type B
Kugelberg-Welander disease
L1 syndrome
L-2-hydroxyglutaric aciduria
L-2-Hydroxyglutaric aciduria
Labyrinthine aplasia microtia ...
Lacrimo-auriculo-dento-digital...
Lactase deficiency congenital
Lactate dehydrogenase B defici...
Lactate dehydrogenase deficien...
Lactate dehydrogenase deficien...
Lactic acidaemia & mitochondri...
Lactic acidemia neonatal
Lactic acidosis
Lactic acidosis fatal early-on...
Lactic acidosis fatal neonatal
Lactic acidosis & hyperpyruvat...
Lactic acidosis microcephaly s...
Lactic acidosis with mitochond...
Lactose intolerance
Lady Windermere syndrome
Lafora body disease early-onse...
Lafora disease
Laing distal myopathy
Lambdoidal craniosynostosis
Lambert-Eaton myasthenic syndr...
Lamb-shaffer syndrome
Lamellar cataract
Lamellar cataract with lens su...
Lamellar ichthyosis
Lamellar ichthyosis with hyper...
Laminin alpha 2 chain deficien...
Laminin alpha 2-related dystro...
Laminopathy
Landau-Kleffner syndrome
Langer-Giedion syndrome
Language impairment
Large-headed spermatazoa
Laron dwarfism
Laron syndrome with elevated s...
Laron syndrome with undetectab...
Laron-type isolated somatotrop...
Larsen-like syndrome B3GAT3 ty...
Larsen syndrome
Larsen syndrome autosomal domi...
Larsen syndrome autosomal rece...
Larsen syndrome, dominant type
Late foetal loss
Latent Tuberculosis
Late-onset adrenal hypoplasia ...
Late-onset retinal degeneratio...
Laterality defect
Lathosterolosis
Lattice corneal dystrophy type...
Lattice corneal dystrophy Type...
Lattice corneal dystrophy Type...
Leaky T low B+ NK+ SCID with n...
Leanness, inherited
Learning disability with progr...
Leber congenital amaurosis
Leber congenital amaurosis 1
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
LEBER CONGENITAL AMAUROSIS 19
Leber congenital amaurosis 2
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Leber congenital amaurosis and...
Leber congenital amaurosis IV
LEBER CONGENITAL AMAUROSIS WIT...
Leber congenital amaurosis wit...
Leber congenital amaurosis wit...
Leber optic atrophy
Leber optic neuropathy-like op...
Leber plus disease
Lecithin:cholesterol acyltrans...
Left-right axis malformation
Left-right axis malformations
Left-right laterality defect
Left-sided congenital heart di...
Left ventricular aneurysm and ...
Left ventricular dysfunction
Left ventricular hypertrophy
Left ventricular non-compactio...
Left ventricular noncompaction
Left ventricular noncompaction...
Left ventricular noncompaction...
Left ventricular noncompaction...
Left ventricular noncompaction...
Left ventricular noncompaction...
Left ventricular noncompaction...
Left ventricular noncompaction...
Left ventricular noncompaction...
Left ventricular non compactio...
Left ventricular noncompaction...
Left ventricular noncompaction...
Left ventricular obstruction
Left ventricular obstruction w...
Left ventricular obstruction w...
Left ventricular obstruction w...
Left ventricular outflow tract...
Legg-Calve-Perthes disease
Legg-Calve-Perthes-like diseas...
Legius syndrome
Lehman syndrome
Leigh disease
Leigh disease with pyruvate an...
Leigh-like disease
Leigh syndrome
Leigh syndrome and combined OX...
Leigh syndrome and combined re...
Leigh syndrome and complex I d...
Leigh syndrome atypical
Leigh syndrome autosomal reces...
Leigh syndrome & developmental...
Leigh syndrome due to mitochon...
Leigh syndrome due to mitochon...
Leigh syndrome French-Canadian...
Leigh syndrome, French Canadia...
Leigh syndrome/Mitochondrial C...
Leigh syndrome with nephropath...
Leiner disease
Leiomyomatosis
Leiomyomatosis and renal cell ...
Leiomyomatosis renal cell canc...
Lennox-Gastaut syndrome
LEOPARD syndrome
LEOPARD syndrome 1
LEOPARD syndrome 2
Leprechaunism
Leprechaunism syndrome
Leptin deficiency
Leptin deficiency or dysfuncti...
Leptin dysfunction
Leptin receptor deficiency
Leri Weill dyschondrosteosis
Lesch-Nyhan syndrome
Lesinurad response
Lethal arthrogryposis with ant...
Lethal congenital contractural...
Lethal congenital contracture ...
Lethal congenital contracture ...
Lethal congenital contracture ...
Lethal congenital contracture ...
Lethal congenital contracture ...
Lethal congenital contracture ...
Lethal congenital contracture ...
Lethal congenital contracture ...
Lethal congenital contracture ...
Lethal congenital contracture ...
Lethal multiple pterygium synd...
Lethal skeletal dysplasia
Lethal tight skin contracture ...
Leucine-induced hypoglycemia
Leucoencephalopathy progressiv...
Leucoencephalopathy severe
Leukaemia
Leukaemia acute lymphoblastic
Leukaemia juvenile myelomonocy...
Leukaemia/lymphoma
Leukemia, acute lymphoblastic,...
Leukemia, acute myeloid, susce...
Leukemia, Philadelphia chromos...
Leukocyte adhesion deficiency
Leukocyte adhesion deficiency ...
Leukocyte adhesion deficiency ...
Leukocyte adhesion deficiency ...
Leukocyte adhesion deficiency ...
Leukocyte adhesion deficiency,...
Leukodystrophy
Leukodystrophy, Adult-Onset
Leukodystrophy, adult-onset, a...
Leukodystrophy and acquired mi...
Leukodystrophy developmental d...
Leukodystrophy fatal infantile
Leukodystrophy hypomyelinating
Leukodystrophy, hypomyelinatin...
Leukodystrophy, hypomyelinatin...
Leukodystrophy, hypomyelinatin...
LEUKODYSTROPHY, HYPOMYELINATIN...
LEUKODYSTROPHY, HYPOMYELINATIN...
LEUKODYSTROPHY, HYPOMYELINATIN...
Leukodystrophy, hypomyelinatin...
Leukodystrophy, hypomyelinatin...
Leukodystrophy, hypomyelinatin...
Leukodystrophy, hypomyelinatin...
Leukodystrophy hypomyelinating...
Leukodystrophy infantile-onset
Leukodystrophy POLR3-related
LEUKODYSTROPHY, PROGRESSIVE, E...
Leukodystrophy subclinical
Leukodystrophy with acute psyc...
Leukodystrophy with acute psyc...
Leukodystrophy with oligodonti...
Leukodystrophy with spastic pa...
Leukoencephalopathy
LEUKOENCEPHALOPATHY, ACUTE REV...
Leukoencephalopathy and ovaria...
Leukoencephalopathy basal gang...
Leukoencephalopathy brain & sp...
Leukoencephalopathy brain & sp...
Leukoencephalopathy cavitating
Leukoencephalopathy, cystic, w...
Leukoencephalopathy hypomyelin...
Leukoencephalopathy infantile
Leukoencephalopathy intellectu...
Leukoencephalopathy lethal inf...
Leukoencephalopathy progressiv...
Leukoencephalopathy, progressi...
Leukoencephalopathy reversible...
Leukoencephalopathy vascular
Leukoencephalopathy with ataxi...
Leukoencephalopathy with axona...
Leukoencephalopathy with Brain...
Leukoencephalopathy with brain...
Leukoencephalopathy with cereb...
Leukoencephalopathy with cysts...
Leukoencephalopathy with early...
Leukoencephalopathy with gait ...
Leukoencephalopathy with micro...
Leukoencephalopathy with multi...
Leukoencephalopathy with muscl...
Leukoencephalopathy with thala...
Leukoencephalopathy with thala...
Leukoencephalopathy with vanis...
Leukoencephalopathy with white...
Leukonychia
Leukonychia & koilonychia
Leukonychia totalis
Levy-Hollister syndrome
Lewy body dementia
Lewy body dementia/Alzheimer d...
Lewy body dementia with parkin...
Leydig cell adenoma, somatic, ...
Leydig cell agenesis
Leydig cell hypoplasia
Leydig cell hypoplasia II
Leydig cell hypoplasia & male ...
Leydig cell hypoplasia, partia...
Leydig cell tumour of the test...
Leydig hypoplasia, type I
Lhermitte-Duclos disease
Lichtenstein-knorr syndrome
Lichtenstein-Knorr syndrome
Liddle syndrome
LIDDLE SYNDROME 3
Li-Fraumeni-like syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome / Li-Frau...
Li-Fraumeni syndrome with gast...
Lig4 syndrome
LIG4 syndrome
Ligneous conjunctivitis
Limb-girdle congenital myasthe...
Limb-girdle congenital myasthe...
Limb-girdle congenital myasthe...
Limb-girdle muscle weakness
Limb-Girdle Muscular Dystrophy...
Limb-girdle muscular dystrophy...
Limb-girdle muscular dystrophy...
Limb-girdle muscular dystrophy...
Limb-girdle muscular dystrophy...
Limb-Girdle Muscular Dystrophy...
Limb-girdle muscular dystrophy...
Limb-girdle muscular dystrophy...
Limb-girdle muscular dystrophy...
Limb-girdle muscular dystrophy...
Limb-girdle muscular dystrophy...
Limb-girdle muscular dystrophy...
Limb-girdle muscular dystrophy...
Limb girdle myasthenia
Limb malformation
Limb-mammary syndrome
Linear skin defects with multi...
Linear skin defects with multi...
Linkeropathy syndrome with eye...
Lipid proteinosis
Lipid storage myopathy
Lipodystrophy
Lipodystrophy acro-osteolysis ...
Lipodystrophy and insulin-resi...
Lipodystrophy and/or insulin-r...
Lipodystrophy congenital and f...
Lipodystrophy congenital gener...
Lipodystrophy mandibular dyspl...
Lipodystrophy partial
Lipodystrophy partial type 3
Lipoid proteinosis
Lipoprotein glomerulopathy
Lipoprotein lipase deficiency
Lipoyltransferase 1 deficiency
Lip telangiectasia
Lissencephaly
Lissencephaly 1
Lissencephaly 2
Lissencephaly 2, X-linked
Lissencephaly 3
Lissencephaly 4
Lissencephaly 5
Lissencephaly 6, with microcep...
Lissencephaly 8
Lissencephaly developmental de...
Lissencephaly isolated
Lissencephaly, Recessive
Lissencephaly/Subcortical Band...
Lissencephaly syndrome X linke...
Lissencephaly thin
Lissencephaly type II
Lissencephaly with cerebellar ...
Lissencephaly with Hirschsprun...
Lissencephaly, X-linked
Lissencephaly X-linked with ab...
Livedo reticularis stroke and ...
Livedo reticularis with stroke...
Liver cancer
Liver cirrhosis
Liver failure acute infantile
Liver failure syndrome 1 infan...
Liver failure transient infant...
Liver glycogenosis
Lobar holoprosencephaly
Localized AR Hypotrichosis
Localized epidermolytic hyperk...
Loeys-Dietz aortic aneurysm sy...
Loeys-Dietz syndrome
Loeys-Dietz syndrome 1
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 3
Loeys-Dietz syndrome 4
Loeys-Dietz syndrome 5
Loeys-Dietz syndrome type 3
Loeys-Dietz syndrome type 4
Loeys-Dietz syndrome type 5
Loeys-Dietz syndrome type I
Loeys-Dietz syndrome type II
Loeys-Dietz syndrome with pneu...
Lone atrial fibrillation
Long-chain 3-hydroxyacyl-CoA d...
Long QT syndrome
Long QT syndrome 1
Long QT syndrome 10
Long QT syndrome 12
Long QT syndrome 2
Long QT syndrome 6
Long QT syndrome 9
Long QT syndrome & atrial fibr...
Long QT syndrome drug-associat...
Long QT syndrome epilepsy & su...
Long QT syndrome latent
Lopes-Maciel-Rodan syndrome
Loss of pain perception
Low anterior hairline
Low bone density
Low dietary cholesterol absorp...
Lowe oculocerebrorenal syndrom...
Lower HDL cholesterol level
Lower limb muscle weakness
Lower motor neuron disease chi...
Lower motor neuron disease wit...
Lower plasma triglyceride leve...
Lowe syndrome
Lowe syndrome/Dent disease 2
Low HDL cholesterol
Low LDL cholesterol
Low LDL cholesterol and reduce...
Low molecular weight proteinur...
Low muscle mass hypotonia grow...
Low phospholipid associated ch...
Low phospholipid associated ch...
Low-set ears
Low white blood cells
LPAC syndrome with dilation of...
LRBA deficiency
Lujan-Fryns syndrome
Lung adenocarcinoma
Lung cancer
Lung cancer primary with multi...
Lung cancer susceptibility to
Lung disease
Lung disease diffuse
lung disease immunodeficiency ...
Lung disease, immunodeficiency...
Lung disease interstitial
Lung disease modifier of
Lupus with neurological manife...
Luteinizing hormone resistance
Lymphangiomyomatosis
Lymphatic malformation 3
Lymphatic-related hydrops feta...
Lymphedema, primary, with myel...
Lymphoblastic leukemia, acute,...
Lymphoedema
Lymphoedema-distichiasis
Lymphoedema primary
Lymphoedema primary with myelo...
Lympho-histiocytic syndrome
Lymphoma
Lymphopenia
Lymphoproliferation immunodefi...
Lymphoproliferative disease fa...
Lymphoproliferative syndrome
Lymphoproliferative syndrome 1
Lymphoproliferative syndrome 1...
Lymphoproliferative syndrome 2
Lymphoproliferative syndrome 2...
Lymphoproliferative syndrome X...
Lymphoproliferative syndrome X...
Lymph vessel dysplasia
Lynch II syndrome
Lynch syndrome
Lynch syndrome I
Lynch syndrome II
Lysinuric protein intolerance
Lysosomal acid lipase deficien...
MacInnes syndrome
Macroadenoma
Macrocephalus
Macrocephaly
Macrocephaly/autism syndrome
Macrocephaly & developmental d...
Macrocephaly hypotonia & learn...
Macrocephaly, macrosomia, faci...
Macrocephaly multiple epiphyse...
Macrocephaly with multiple epi...
Macrocytic anaemia with variab...
Macrocytic dyserythropoietic a...
Macroglossia
Macronodular adrenal hyperplas...
Macronodular adrenal hyperplas...
Macroscopic haematuria with mi...
Macrostomia
Macrothrombocytopaenia
Macrothrombocytopaenia and ble...
Macrothrombocytopaenia congeni...
Macrothrombocytopaenia develop...
Macrothrombocytopaenia with fo...
Macrothrombocytopaenia with le...
Macrothrombocytopenia
Macrothrombocytopenia and gran...
Macrothrombocytopenia, familia...
Macrozoospermia
Macular abnormalities
Macular and cone/cone-rod dyst...
Macular and cone/cone-rod dyst...
Macular atrophy
Macular corneal dystrophy
Macular corneal dystrophy type...
Macular corneal dystrophy type...
Macular corneal dystrophy Type...
Macular corneal dystrophy, typ...
Macular degeneration
Macular degeneration age relat...
Macular degeneration juvenile
Macular dystrophy
Macular dystrophy concentric a...
Macular dystrophy early-onset
Macular dystrophy nonsyndromic
Macular dystrophy, patterned, ...
Macular dystrophy, patterned, ...
Macular dystrophy unspecified
Macular dystrophy vitelliform
Macular dystrophy, vitelliform...
Macular pseudocoloboma
Maculopathy and cone dystrophy
Maculopathy atypical
Madelung deformity
Mainzer-Saldino syndrome
Mainzer-Saldino syndrome / Jeu...
Mainzer-Saldino syndrome / Sen...
Mainzer-Saldino syndrome with ...
Majeed syndrome
Major depressive disorder
Major platelet functional defe...
Mal de Meleda
Male germ cell tumor, somatic
Male infertility
Male infertility due to obstru...
Male infertility with small he...
Male infertility with teratozo...
Male precocious puberty
Malformation of cortical devel...
Malformations of cortical deve...
Malignant hyperthermia
Malignant hyperthermia equivoc...
Malignant hyperthermia & exert...
Malignant hyperthermia suscept...
Malignant hyperthermia, suscep...
Malignant hyperthermia suscept...
Malignant hypothermia
Malignant melanoma of skin
Malignant Melanoma Susceptibil...
Malignant migrating partial se...
Malignant migrating partial se...
Malignant neoplasm of body of ...
Malignant tumor of ascending c...
Malignant tumor of esophagus
Malignant tumor of floor of mo...
Malignant tumor of prostate
Malignant tumor of sigmoid col...
Malignant tumor of testis
Malonic & methylmalonic acidur...
Malonyl-CoA decarboxylase defi...
Malpuech facial clefting syndr...
Mandibular hypoplasia deafness...
Mandibular prognathism
Mandibuloacral dysostosis
Mandibuloacral dysplasia
Mandibuloacral dysplasia & pro...
Mandibuloacral dysplasia type ...
Mandibuloacral dysplasia with ...
Mandibuloacral dysplasia with ...
Mandibuloacral dysplasia with ...
Mandibulofacial dysostosis
Mandibulofacial dysostosis, Tr...
Mandibulofacial dysostosis wit...
Mandibulofacial dysostosis wit...
Mannose-binding protein defici...
Mannosidosis alpha
Mannosidosis beta lysosomal
Mantle cell lymphoma
Maple syrup urine disease
Maple syrup urine disease 2
MAPLE SYRUP URINE DISEASE, CLA...
Maple syrup urine disease, mil...
Maple syrup urine disease, thi...
Maple syrup urine disease type...
Maple syrup urine disease type...
Maple syrup urine disease type...
Maple syrup urine disease, typ...
MAPT-Related Spectrum Disorder...
Marfan-like syndrome
Marfanoid habitus
Marfan syndrome
Marfan syndrome II
Marfan syndrome incomplete
Marfan/Thoracic aortic aneurys...
Marie Unna hereditary hypotric...
Marinesco-Sjögren syndrome
Marked hypotonia with waddling...
Marshall / Stickler syndrome
Marshall/Stickler syndrome
Marshall syndrome
Martinique crinkled retinal pi...
MASA syndrome
MASP2 deficiency
Mast cell disease, systemic
Mastocytosis
Mastocytosis diffuse cutaneous
Mastocytosis with haematologic...
Mast syndrome
Maternal diabetes
Maturity onset diabetes mellit...
Maturity-onset diabetes of the...
Maturity-onset diabetes of the...
Maturity-onset diabetes of the...
Maturity-onset diabetes of the...
Maturity-onset diabetes of the...
Maturity-onset diabetes of the...
Maturity-onset diabetes of the...
Maturity-onset diabetes of the...
Mauriac syndrome
Mayer-Rokitansky-Küster-Hauser...
May-Hegglin anomaly
May-Hegglin anomaly/Sebastian ...
McArdle disease
McArdle disease with progressi...
McCune-Albright syndrome
McCune-Albright syndrome/Polyo...
McKusick Kaufman syndrome
McKusick-Kaufman syndrome
McLeod neuroacanthocytosis syn...
McLeod syndrome
MDA5-related type I interfero...
Meacham syndrome
Meckel-Gruber-like syndrome
Meckel-Gruber syndrome
Meckel syndrome
Meckel syndrome 12
Meckel syndrome, type 10
Meckel syndrome type 2
Meckel syndrome type 5
Meckel syndrome type 6
Meconium ileus
Meconium ileus lethal
MED13L haploinsufficiency synd...
MED13L-related intellectual di...
Median cleft lip
Mediterranean fever familial
Mediterranean fever familial w...
Mediterranean fever with Behçe...
Medium and short-chain 3-hydro...
Medium chain acyl CoA dehydrog...
Medium-chain acyl-coenzyme A d...
Medullary cystic kidney diseas...
Medullary thyroid carcinoma
Medulloblastoma
Medulloblastoma desmoplastic/n...
Meesman corneal dystrophy
Meester-loeys syndrome
MEF2C haploinsufficiency syndr...
Megaconial muscular dystrophy
MEGA-CORPUS-CALLOSUM SYNDROME ...
Mega-corpus-callosum syndrome ...
Megacystis
Megacystis-microcolon-intestin...
Megalencephalic leukoencephalo...
Megalencephalic leukoencephalo...
Megalencephalic leukoencephalo...
Megalencephalic leukoencephalo...
Megalencephalic leukoencephalo...
Megalencephaly
Megalencephaly and macrosomia
Megalencephaly and polymicrogy...
Megalencephaly-capillary malfo...
Megalencephaly-capillary malfo...
Megalencephaly cutis marmorata...
Megalencephaly polymicrogyria ...
Megalencephaly polymicrogyria ...
Megalencephaly-polymicrogyria-...
Megalencephaly-polymicrogyria-...
Megalencephaly-polymicrogyria-...
Megalencephaly-polymicrogyria-...
Megalencephaly with growth hor...
Megaloblastic anaemia
Megaloblastic anaemia 1
Megaloblastic anaemia and/or p...
Megaloblastic anaemia & atypic...
Megaloblastic anaemia & cerebr...
Megaloblastic anaemia thiamine...
Megaloblastic anaemia thiamine...
Megaloblastic anemia
Megaloblastic anemia 1, Finnis...
Megaloblastic anemia 1, Norweg...
Megaloblastic anemia due to di...
Megaloblastic anemia due to in...
Megaloblastic anemia, thiamine...
MEHMO syndrome
Meier-Gorlin syndrome
Meier-Gorlin syndrome 1
Meier-Gorlin syndrome 2
Meier-Gorlin syndrome 3
Meier-Gorlin syndrome 4
Meier-Gorlin syndrome 5
Meier-gorlin syndrome 7
MEIER-GORLIN SYNDROME 8
Meier-Gorlin syndrome & cranio...
Meiotic arrest
Melanoma
Melanoma, cutaneous malignant,...
Melanoma/Pancreatic cancer
Melkersson-Rosenthal syndrome
Melnick-Fraser syndrome
Melnick-Needles syndrome
Melnick-Needles syndrome epile...
Membranoproliferative glomerul...
Membranous cataract
MEND syndrome
Ménière disease
Meniere's disease autosomal do...
Meningioma
Meningioma, familial
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
Menkes kinky-hair syndrome
Menkes syndrome
Menkes syndrome atypical
Menkes syndrome mild variant
Menkes syndrome with heart def...
Menorrhagia
Mental deterioration
Mental retardation
Mental retardation 21, X-linke...
Mental retardation 24
Mental retardation 30, X-linke...
Mental retardation 3, X-linked
Mental retardation 46, X-linke...
Mental retardation 49, X-linke...
Mental retardation 63, X-linke...
Mental retardation 9, X-linked
Mental retardation and cerebel...
Mental retardation and distinc...
Mental retardation and distinc...
Mental retardation and epileps...
Mental retardation and microce...
Mental retardation and nystagm...
Mental retardation and progres...
Mental retardation and seizure...
Mental retardation, anterior m...
Mental retardation autosomal d...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation autosomal d...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation autosomal d...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation autosomal d...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
Mental retardation, autosomal ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
Mental retardation autosomal d...
Mental retardation, autosomal ...
Mental retardation autosomal d...
Mental retardation, autosomal ...
Mental retardation autosomal d...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
Mental retardation, autosomal ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
MENTAL RETARDATION, AUTOSOMAL ...
Mental retardation, autosomal ...
Mental retardation Bain type
Mental retardation & callosum ...
Mental retardation, CASK-relat...
Mental retardation deafness an...
Mental retardation dystonia an...
Mental retardation, fra12a typ...
Mental retardation non-specifi...
Mental retardation non-specifi...
Mental retardation non-syndrom...
Mental retardation non-syndrom...
Mental retardation nystagmus a...
Mental retardation Rett-like
Mental retardation seizures & ...
Mental retardation, short stat...
Mental retardation, stereotypi...
Mental retardation syndrome X-...
Mental retardation, syndromic ...
Mental retardation, syndromic,...
Mental retardation with behavi...
Mental retardation with langua...
Mental retardation, with or wi...
Mental retardation with panhyp...
Mental retardation X-linked
Mental retardation, X-linked 1
Mental retardation, X-linked 1...
Mental retardation, X-linked 1...
Mental retardation, X-linked 1...
MENTAL RETARDATION, X-LINKED 1...
Mental retardation, X-linked 1...
Mental retardation, X-linked 1...
Mental retardation, X-linked 1...
Mental retardation X-linked 3
Mental retardation, X-linked 4...
Mental retardation, X-linked 6...
Mental retardation, X-linked 9...
Mental retardation, X-linked 9...
Mental retardation, X-linked 9...
Mental retardation, X-linked 9...
Mental retardation X-linked Ch...
Mental retardation X-linked Cl...
Mental retardation, X-linked, ...
Mental retardation, X-linked, ...
Mental retardation, X-linked, ...
Mental retardation, X-linked, ...
MENTAL RETARDATION, X-LINKED, ...
Mental retardation, X-linked, ...
Mental retardation, X-linked, ...
Mental retardation X-linked wi...
Meretoja syndrome
Merosin deficiency partial
Merosin deficient congenital m...
Mesangiocapillary glomerulonep...
Mesial temporal lobe epilepsy
Mesoaxial synostotic syndactyl...
Mesoaxial synostotic syndactyl...
Mesothelioma
Metabolic acidosis 3-methylglu...
Metabolic disease
Metabolic laminopathy
Metabolic myopathy / haemolysi...
Metabolic syndrome
Metabolic syndrome, susceptibi...
Metabolic syndrome with centra...
Metabolism
Metachondromatosis
Metachromatic leukodystrophy
Metachromatic leukodystrophy, ...
Metachromatic leukodystrophy, ...
Metachromatic leukodystrophy l...
Metachromatic leukodystrophy, ...
Metachromatic leukodystrophy, ...
Metachromatic leukodystrophy v...
Metaphyseal anadysplasia
Metaphyseal anadysplasia 1, au...
Metaphyseal anadysplasia 2
Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, ...
Metaphyseal chondrodysplasia S...
Metaphyseal chondrodysplasia, ...
Metaphyseal chondrodysplasia, ...
Metaphyseal chondromatosis wit...
Metaphyseal dysplasia Jansen
Metaphyseal dysplasia Spahr ty...
Metatrophic dysplasia
Metatropic dysplasia
Methaemoglobinaemia
Methaemoglobinaemia 1
Methaemoglobinaemia 2
Methaemoglobinaemia 3
Methemoglobinaemia and cyanosi...
Methemoglobinemia type 2
Methemoglobinemia type 4
Methemoglobinemia, type I
Methionine adenosyltransferase...
Methionine adenosyltransferase...
Methionine adenosyltransferase...
Methionine synthase deficiency
Methotrexate elimination impai...
METHYLCOBALAMIN DEFICIENCY, cb...
Methylcrotonyl-CoA carboxylase...
Methylenetetrahydrofolate redu...
Methylmalonate semialdehyde de...
Methylmalonic acidaemia
Methylmalonic acidaemia seizur...
Methylmalonic acidemia
Methylmalonic acidemia and hyp...
Methylmalonic acidemia with ho...
Methylmalonic acidemia with ho...
Methylmalonic aciduria
METHYLMALONIC ACIDURIA AND HOM...
METHYLMALONIC ACIDURIA AND HOM...
Methylmalonic aciduria and met...
Methylmalonic aciduria cblA ty...
Methylmalonic aciduria cblB ty...
Methylmalonic aciduria due to ...
Methylmalonic aciduria due to ...
Methylmalonic aciduria & homoc...
Methylmalonic aciduria mut (0)...
METHYLMALONIC ACIDURIA, mut(0)...
Methylmalonic aciduria vblc ty...
Methylmalonic aciduria with ho...
Methylmalonyl-CoA epimerase de...
Mevalonate kinase deficiency
Mevalonic aciduria
M-ficolin deficiency
MHC class II deficiency
MHC Class II Deficiency
Michel aplasia microtia & micr...
Michels syndrome
Microcephalic dwarfism
Microcephalic primordial dwarf...
Microcephaly
Microcephaly 17, primary, auto...
Microcephaly 18, primary, auto...
MICROCEPHALY 19, PRIMARY, AUTO...
MICROCEPHALY 20, PRIMARY, AUTO...
MICROCEPHALY 22, PRIMARY, AUTO...
Microcephaly and cataracts
Microcephaly and developmental...
Microcephaly and progressive c...
Microcephaly autosomal recessi...
Microcephaly-capillary malform...
MICROCEPHALY, CATARACTS, IMPAI...
Microcephaly & chorioretinopat...
Microcephaly congenital
Microcephaly corpus callosum a...
Microcephaly developmental del...
Microcephaly developmental del...
Microcephaly developmental del...
Microcephaly developmental del...
Microcephaly early infantile e...
Microcephaly early-onset seizu...
Microcephaly early onset seizu...
Microcephaly, epilepsy, and di...
Microcephaly epileptic encepha...
Microcephaly epileptic encepha...
Microcephaly facial dysmorphis...
Microcephaly & failure to thri...
Microcephaly global developmen...
MICROCEPHALY, GROWTH DEFICIENC...
Microcephaly & hypomyelination
Microcephaly hypomyelination a...
Microcephaly intellectual disa...
Microcephaly intellectual disa...
Microcephaly intellectual disa...
Microcephaly intellectual disa...
Microcephaly intellectual disa...
Microcephaly lymphoedema & cho...
Microcephaly & mental retardat...
Microcephaly, normal intellige...
Microcephaly optic atrophy and...
Microcephaly & pain insensitiv...
Microcephaly paraplegia
Microcephaly polymicrogyria & ...
Microcephaly postnatal
Microcephaly postnatal progres...
Microcephaly, postnatal progre...
Microcephaly primary
Microcephaly progressive & hyp...
Microcephaly progressive seizu...
Microcephaly, progressive, wit...
Microcephaly seizures and fail...
Microcephaly seizures and musc...
Microcephaly seizures & develo...
Microcephaly seizures & oculom...
Microcephaly seizures & progre...
Microcephaly severe
Microcephaly severe foetal
Microcephaly short stature and...
Microcephaly, short stature, a...
Microcephaly, short stature, a...
Microcephaly short stature & b...
Microcephaly simplified gyral ...
Microcephaly skeletal dysplasi...
Microcephaly syndrome lethal
Microcephaly syndrome non-leth...
Microcephaly with or without c...
Microcephaly with or without c...
Microcephaly with short statur...
Microcephaly with simplified g...
Microcolon-megacystic syndrome
Microcornea
Microcornea cataract & cone-ro...
Microcornea myopic chorioretin...
Microcornea, myopic chorioreti...
Microcornea, rod-cone dystroph...
Microcytic anaemia
Microcytic anaemia & hyperinfl...
Microcytic anaemia & iron over...
Microcytic anemia
Microcytic hypochromic anaemia
Microcytic hypochromic anaemia...
Microcytosis and hypochromia
Microcytosis & hypochromia wit...
Microform cleft
microform holoprosencephaly
Micrognathia
Micrognathia & facial dysmorph...
Microhaematuria and proteinuri...
Microhydranencephaly
Microlissencephaly
Microlissencephaly with multin...
Micropenis
Microphthalmia
Microphthalmia and anterior se...
Microphthalmia and diaphragmat...
Microphthalmia anophthalmia an...
Microphthalmia bilateral
Microphthalmia cataract and ir...
Microphthalmia, cataracts, and...
Microphthalmia & coloboma
Microphthalmia/coloboma and sk...
Microphthalmia colobomatous
Microphthalmia congenital cata...
Microphthalmia congenital cata...
Microphthalmia, isolated 2
Microphthalmia, isolated 3
Microphthalmia, isolated 4
Microphthalmia, isolated 6
Microphthalmia, isolated 7
Microphthalmia, isolated 8
Microphthalmia, isolated, with...
Microphthalmia, isolated, with...
Microphthalmia, isolated, with...
Microphthalmia, isolated, with...
Microphthalmia renal aplasia h...
Microphthalmia syndromic
Microphthalmia, syndromic 11
Microphthalmia, syndromic 12
Microphthalmia syndromic 3
Microphthalmia syndromic 5
Microphthalmia syndromic 6
Microphthalmia syndromic 7
Microphthalmia with bilateral ...
Microphthalmia with corneal op...
Microphthalmia with sclerocorn...
Microphthalmos with staphyloma...
Microscopic hematuria
Microtia
Microtia, hearing impairment, ...
Microvillus inclusion disease
Midface hypoplasia, hearing im...
Migraine
Migraine & advanced sleep phas...
Migraine, familial basilar
Migrating focal seizures of in...
Migrating partial seizures of ...
Mild global developmental dela...
Mild intellectual disability w...
Mild sun sensitivity
Miles-Carpenter syndrome
Miller-Dieker lissencephaly sy...
Miller syndrome
Milroy disease
Mineralocorticoid deficiency, ...
Minicore myopathy
Mirage syndrome
MIRAGE syndrome
Mirror movements 1
Mirror movements 2
MIRROR MOVEMENTS 4
Mirror movements congenital
Mismatch repair defect
mitochondrial 3-hydroxy-3-meth...
Mitochondrial ATP synthase def...
Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy i...
Mitochondrial cardiomyopathy L...
Mitochondrial cardiomyopathy w...
Mitochondrial complex 1 defici...
Mitochondrial complex 1 defici...
Mitochondrial complex I defici...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
MITOCHONDRIAL COMPLEX I DEFICI...
Mitochondrial complex II defic...
Mitochondrial complex III defi...
Mitochondrial complex III defi...
Mitochondrial complex III defi...
Mitochondrial complex III defi...
Mitochondrial complex III defi...
Mitochondrial complex III defi...
Mitochondrial complex III defi...
Mitochondrial complex III defi...
Mitochondrial complex II/III d...
Mitochondrial complex IV defic...
Mitochondrial Complex V (ATP S...
Mitochondrial complex v (atp s...
Mitochondrial complex V defici...
Mitochondrial cytopathy
Mitochondrial disease
Mitochondrial disease multisys...
Mitochondrial diseases
Mitochondrial disease systemic
Mitochondrial disorder
Mitochondrial DNA depletion
Mitochondrial DNA depletion & ...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
MITOCHONDRIAL DNA DEPLETION SY...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA-depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA depletion sy...
Mitochondrial DNA instability
Mitochondrial DNA instability ...
Mitochondrial dynamics impairm...
Mitochondrial dysfunction
Mitochondrial dysfunction/dise...
Mitochondrial encephalomyopath...
Mitochondrial encephalomyopath...
Mitochondrial encephalomyopath...
Mitochondrial encephalomyopath...
Mitochondrial encephalopathy
Mitochondrial encephalopathy e...
Mitochondrial encephalopathy e...
Mitochondrial encephalopathy f...
Mitochondrial encephalopathy f...
Mitochondrial encephalopathy i...
Mitochondrial encephalopathy w...
Mitochondrial encephalopathy w...
Mitochondrial encephalopmyopat...
Mitochondrial hepatoencephalop...
Mitochondrial HMG-CoA synthase...
Mitochondrial intermediate pep...
Mitochondrial leukoencephalopa...
Mitochondrial leukoencephalopa...
Mitochondrial myopathy
Mitochondrial myopathy and sid...
Mitochondrial myopathy and sid...
Mitochondrial myopathy autosom...
Mitochondrial myopathy early-o...
Mitochondrial myopathy & hyper...
Mitochondrial myopathy with la...
Mitochondrial neurogastrointes...
Mitochondrial neurogastrointes...
Mitochondrial phosphate carrie...
Mitochondrial progressive myop...
Mitochondrial pyruvate carrier...
Mitochondrial respiratory chai...
Mitochondrial respiratory chai...
Mitochondrial short-chain enoy...
Mitochondrial short-chain enoy...
Mitochondrial spinocerebellar ...
Mitochondrial trifunctional pr...
Mitochondrial trifunctional pr...
Mitochondrial trifunctional pr...
Mitochondriopathy with optic a...
Mitochondriopathy with optic n...
Mitomycin-C resistance
Mitral valve dystrophy
Mixed Phenotype Acute Leukemia...
Mixed Phenotype Acute Leukemia...
Mixed vascular malformation wi...
MLASA syndrome
MLH3-Related Lynch Syndrome
ML / LEOPARD syndrome
MMSDH deficiency
MNS antigen absence
moAb VX15/2503
Moderate global developmental ...
Moderate intellectual disabili...
Moebius syndrome
Mohr-Majewski syndrome
Mohr-Tranebjaerg syndrome
Molybdenum cofactor deficiency
Molybdenum cofactor deficiency...
Molybdenum cofactor deficiency...
Molybdenum cofactor deficiency...
Molybdenum cofactor deficiency...
Mondini deformity
Monilethrix
Monoamine oxidase A deficiency
Monocarboxylate transporter 1 ...
Monocarboxylate transporter 1 ...
Monocarboxylate transporter 8 ...
Monochromacy
Monoclonal B-Cell Lymphocytosi...
Monocytopaenia & mycobacterial...
Monogenic diabetes
Morbid obesity
Morquio disease B
Morquio syndrome
Mosaic variegated aneuploidy
Mosaic variegated aneuploidy s...
Mosaic variegated aneuploidy s...
Mosaic variegated aneuploidy s...
Motor and sensory axonal neuro...
Motor delay speech delay seizu...
Motor disability microcephaly ...
Motor neuron disease
Motor neuron disease lower
Motor neuropathy
Motor neuropathy and distal my...
Motor neuropathy axonal
Motor neuropathy distal
Motor neuropathy distal heredi...
Motor neuropathy distal heredi...
Motor neuropathy hereditary
Motor neuropathy nonprogressiv...
Motor-sensory defects cortical...
Motor & sensory neuropathy
Motor-sensory neuropathy
Motor-sensory neuropathy 1
Motor & sensory neuropathy and...
Motor weakness contractures an...
Moyamoya angiopathy early-onse...
Moyamoya disease
Moyamoya disease 1
Moyamoya disease & hypertensio...
MPV17-related mitochondrial DN...
MTHFD1 deficiency
MTO1 deficiency
Muckle-Wells syndrome
Mucociliary clearance disorder...
Mucocutaneous candidiasis
Mucolipidosis II
Mucolipidosis III
Mucolipidosis IIIA
Mucolipidosis IIIA/B
Mucolipidosis III gamma
Mucolipidosis III Gamma
Mucolipidosis intermediate
Mucolipidosis IV
Mucolipidosis type IV
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis IIId
Mucopolysaccharidosis IVa
Mucopolysaccharidosis IX
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III...
Mucopolysaccharidosis, MPS-III...
Mucopolysaccharidosis, MPS-III...
Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis, MPS-IV-...
Mucopolysaccharidosis, MPS-IV-...
Mucopolysaccharidosis-plus syn...
Mucopolysaccharidosis type I
Mucopolysaccharidosis, type II...
Mucopolysaccharidosis type VI
Mucopolysaccharidosis type VII
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
Muir-Torre syndrome
MULLEGAMA-KLEIN-MARTINEZ SYNDR...
Mulleran duct anomaly
Mullerian aplasia and hyperand...
Mullerian duct abnormality and...
Multicentric carpotarsal osteo...
Multicentric osteolysis nephro...
Multicentric osteolysis, nodul...
Multicentric osteolysis nodulo...
Multicentric Osteolysis-Nodulo...
Multicystic kidney dysplasia
Multicystic renal dysplasia, b...
Multifocal best vitelliform ma...
Multifocal dystonia late-onset
Multifocal vitelliform dystrop...
Multilocus imprinting disorder
Multi-minicore disease
Multiminicore Disease
Multi-minicore disease with ca...
Multiminicore/minicore/multico...
Multinodular goiter
Multinodular goiter and papill...
Multi-organ autoimmune disease
Multi-organ autoimmune disease...
Multi-organ disorder
Multiorgan polycystic disease ...
Multiple acyl-CoA dehydrogenas...
Multiple adenomas
Multiple cafe-au-lait spots
Multiple cancers
Multiple carboxylase deficienc...
Multiple colorectal adenomas
Multiple congenital anomalies
Multiple congenital anomalies ...
Multiple congenital anomalies-...
Multiple congenital anomalies-...
Multiple congenital anomalies-...
Multiple congenital anomalies/...
Multiple congenital anomalies ...
Multiple congenital anomalies ...
Multiple congenital exostosis
Multiple Cutaneous and Mucosal...
Multiple cutaneous and uterine...
Multiple cutaneous leiomyomas
Multiple endocrine neoplasia
Multiple endocrine neoplasia 1
Multiple endocrine neoplasia 1...
Multiple endocrine neoplasia 2
Multiple endocrine neoplasia 2...
Multiple endocrine neoplasia 2...
Multiple endocrine neoplasia, ...
Multiple endocrine neoplasia, ...
Multiple endocrine neoplasia, ...
Multiple endocrine neoplasia, ...
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia ...
Multiple epiphyseal dysplasia ...
Multiple epiphyseal dysplasia ...
Multiple epiphyseal dysplasia ...
Multiple epiphyseal dysplasia ...
Multiple epiphyseal dysplasia ...
Multiple Epiphyseal Dysplasia,...
Multiple exostoses
Multiple exostoses 1
Multiple exostoses 2
Multiple exostoses type 2
Multiple fibroadenomas of the ...
Multiple fibrofolliculomas
Multiple fractures blue sclera...
Multiple gastrointestinal atre...
Multiple intestinal atresia
Multiple joint dislocations, s...
Multiple leiomyomatosis
Multiple malformations
Multiple malformation syndrome
Multiple meningiomas
Multiple mitochondrial DNA del...
Multiple mitochondrial dysfunc...
Multiple mitochondrial dysfunc...
Multiple mitochondrial dysfunc...
Multiple mitochondrial dysfunc...
MULTIPLE MITOCHONDRIAL DYSFUNC...
Multiple morphological abnorma...
Multiple morphological abnorma...
Multiple myeloma
Multiple myelomas
Multiple osteochondromas
Multiple primary melanomas
Multiple pterygium syndrome Es...
Multiple respiratory-chain def...
Multiple sclerosis
Multiple sclerosis-like featur...
Multiple self-healing palmopla...
Multiple self healing squamous...
Multiple self-healing squamous...
Multiple self-healing squamous...
Multiple sulfatase deficiency
Multiple sulphatase deficiency
Multiple synostoses and cranio...
Multiple synostoses syndrome
Multiple synostoses syndrome 2
Multiple synostoses syndrome 3
Multiple synostoses syndrome 4
MULTIPLE SYNOSTOSES SYNDROME 4
Multiple synostoses syndrome a...
Multiple synostosis syndrome
Multiple system atrophy
Multiple system atrophy cerebe...
Multiple sytem atrophy
Multisystem developmental synd...
Multisystemic mitochondrial di...
Multisystem inflammatory disea...
Multisystem proteinopathy
Multisystem proteinopathy and ...
Multisystem smooth muscle dysf...
Mungan syndrome
Muscle AMP deaminase deficienc...
Muscle and heart defects with ...
Muscle atrophy
Muscle central nervous system ...
Muscle central nervous system ...
Muscle creatine kinase deficie...
Muscle eye brain disease
Muscle-eye-brain disease
Muscle-eye-brain disease and/o...
Muscle-eye-brain disease-like ...
Muscle-eye-brain like disease
Muscle-eye-brain syndrome/Fuku...
Muscle hypertrophy
Muscle hypotonia dystonia fail...
Muscle hypotony proximal tubul...
Muscle hypotony ptosis and epi...
Muscle weakness
Muscle weakness and cardiac co...
Muscle weakness and distal lim...
Muscle weakness & arrhythmia
Muscle weakness limb girdle
Muscular atrophy of the distal...
Muscular diseases
Muscular Diseases
Muscular dystrophy
Muscular dystrophy and arthrog...
MUSCULAR DYSTROPHY, AUTOSOMAL ...
Muscular dystrophy brain abnor...
Muscular dystrophy cardiomyopa...
Muscular dystrophy congenital
Muscular dystrophy congenital ...
Muscular dystrophy congenital ...
Muscular dystrophy congenital ...
Muscular dystrophy, congenital...
Muscular dystrophy, congenital...
Muscular dystrophy, congenital...
Muscular dystrophy congenital/...
Muscular dystrophy & congenita...
Muscular dystrophy congenital ...
Muscular dystrophy, congenital...
Muscular dystrophy congenital ...
Muscular dystrophy development...
Muscular dystrophy Duchenne-li...
Muscular dystrophy-dystroglyca...
Muscular dystrophy-dystroglyca...
Muscular dystrophy-dystroglyca...
Muscular dystrophy-dystroglyca...
Muscular dystrophy-dystroglyca...
Muscular dystrophy-dystroglyca...
Muscular dystrophy-dystroglyca...
Muscular dystrophy-dystroglyca...
Muscular dystrophy-dystroglyca...
Muscular dystrophy-dystroglyca...
Muscular dystrophy-dystroglyca...
Muscular dystrophy Emery-Dreif...
Muscular dystrophy Emery-Dreif...
Muscular dystrophy Emery-Dreif...
Muscular dystrophy LAMA2-relat...
Muscular dystrophy lamin A/C-r...
Muscular dystrophy limb girdle
Muscular dystrophy limb-girdle
Muscular dystrophy limb girdle...
Muscular dystrophy limb-girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb-girdle...
Muscular dystrophy limb girdle...
Muscular dystrophy limb-girdle...
MUSCULAR DYSTROPHY, LIMB-GIRDL...
Muscular dystrophy, limb-girdl...
Muscular dystrophy, limb-girdl...
Muscular dystrophy, limb-girdl...
Muscular dystrophy, limb-girdl...
Muscular dystrophy limb girdle...
Muscular dystrophy limb-girdle...
Muscular dystrophy limb-girdle...
Muscular dystrophy megaconial
Muscular dystrophy mental reta...
Muscular dystrophy merosin def...
Muscular dystrophy merosin def...
Muscular dystrophy progressive
Muscular dystrophy with catara...
Muscular dystrophy with cerebe...
Muscular dystrophy with lipody...
Muscular dystrophy with mental...
Muscular dystrophy without con...
Muscular dystrophy with rigid ...
Muscular dystrophy with short ...
Muscular hypotonia
Musculocontractural Ehlers-Dan...
Mutilating keratoderma
Mutilating sensory neuropathy ...
MUTYH-associated polyposis
Myasthenia cortical hyperexcit...
Myasthenia, limb-girdle, famil...
Myasthenia & myopathy
Myasthenic syndrome congenital
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
MYASTHENIC SYNDROME, CONGENITA...
MYASTHENIC SYNDROME, CONGENITA...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome, congenita...
Myasthenic syndrome presynapti...
Myasthenic syndrome, slow-chan...
Mycobacterial and viral infect...
Mycobacterial disease mendelia...
Mycobacterial infection
Mycobacteriosis atypical
Mycobacterium & Salmonella inf...
Mycobacterium tuberculosis, su...
Myelocerebellar disorder
Myelodysplasia & leukaemia syn...
Myelodysplasia with acute myel...
Myelodysplastic/myeloprolifera...
Myelodysplastic syndrome
Myelodysplastic syndrome / acu...
Myelodysplastic syndrome / acu...
Myelodysplastic syndrome and t...
Myelodysplastic syndrome with ...
Myelofibrosis
Myeloid neoplasm
Myelomeningocele
Myelomonocytic leukaemia juven...
Myeloneuropathy dominant
Myeloperoxidase deficiency
Myeloproliferative disorder
Myeloproliferative Neoplasm
Myeloproliferative neoplasms
Myeloproliferative syndrome
MYH3-Related Disorders
MYH7-Related Disorders
MYH9-related disease
MYH9-related disorder
MYH-associated polyposis
Myhre syndrome
MYO7A-Related Disorders
Myocardial infarction
Myocardial infarction 1
Myocardial infarction increase...
Myocardial infarction prematur...
Myocerebrohepatopathy spectrum...
Myoclonic astatic epilepsy
Myoclonic-astatic epilepsy
Myoclonic atonic epilepsy
Myoclonic-atonic epilepsy
Myoclonic dystonia
Myoclonic epilepsy
Myoclonic epilepsy benign infa...
Myoclonic epilepsy early-onset
Myoclonic epilepsy, familial i...
Myoclonic epilepsy focal infan...
Myoclonic epilepsy infantile w...
Myoclonic epilepsy neonatal
Myoclonic epilepsy of Lafora
Myoclonic epilepsy of Lafora m...
Myoclonic epilepsy progressive
Myoclonus
Myoclonus dystonia
Myoclonus-dystonia autosomal d...
Myoclonus epilepsy with declin...
Myoclonus, familial 1
Myoclonus with intellectual / ...
MYOC-Related Disorders
Myofibrillar myopathy
Myofibrillar myopathy 1
Myofibrillar myopathy 3
Myofibrillar myopathy autosoma...
Myofibrillar myopathy, BAG3-re...
Myofibrillar myopathy cardiomy...
Myofibrillar myopathy, filamin...
Myofibrillar myopathy ZASP-rel...
Myofibrillar myopathy, ZASP-re...
Myofibromatosis infantile
Myofibromatosis infantile comp...
Myokymia
Myokymia 1
Myokymia 1 with hypomagnesemia
Myopathy
Myopathy, actin, congenital, w...
Myopathy, actin, congenital, w...
Myopathy and encephalopathy
Myopathy autophagic vacuolar
Myopathy axial-distal early-on...
Myopathy calf-predominant
Myopathy cataract & combined r...
Myopathy, Central Core
Myopathy centronuclear
Myopathy, centronuclear
Myopathy, centronuclear, 1
Myopathy, centronuclear, 3
Myopathy, centronuclear, 4
Myopathy centronuclear autosom...
Myopathy centronuclear autosom...
Myopathy congenital
Myopathy congenital (CNMDU1)
Myopathy, congenital, compton-...
MYOPATHY, CONGENITAL, PROGRESS...
Myopathy congenital RYR1-relat...
Myopathy congenital with cores
Myopathy congenital with coron...
Myopathy, congenital, with exc...
MYOPATHY, CONGENITAL, WITH FAS...
Myopathy, congenital, with neu...
MYOPATHY, CONGENITAL, WITH TRE...
Myopathy desmin related
Myopathy desmin related with a...
Myopathy dilatative
Myopathy distal
Myopathy distal 1
Myopathy, distal, 1
Myopathy, distal, 4
Myopathy, distal, 5
Myopathy distal and proximal w...
Myopathy distal early-onset
Myopathy distal Laing
Myopathy distal Laing-like
Myopathy distal with rimmed va...
Myopathy early-onset
Myopathy early-onset and proge...
Myopathy hypoacusis endocrine ...
Myopathy infantile inflammator...
Myopathy, lactic acidosis, and...
Myopathy, lactic acidosis, and...
Myopathy-lactic acidosis-sider...
Myopathy limb-girdle
MYOPATHY, MITOCHONDRIAL, AND A...
Myopathy/Muscular dystrophy
Myopathy MYH2-related
Myopathy MYH7-related
Myopathy myofibrillar
Myopathy, myofibrillar, 8
Myopathy Native American
Myopathy polyneuropathy & atax...
Myopathy & posterior white mat...
Myopathy primary
Myopathy progressive with sarc...
Myopathy pseudometabolic
Myopathy, reducing body, X-lin...
Myopathy, reducing body, X-lin...
Myopathy rimmed vacuolar
Myopathy RYR1-associated
Myopathy, RYR1-associated
Myopathy scapulohumeroperoneal
Myopathy, scapulohumeroperonea...
Myopathy, tubular aggregate, 1
Myopathy, vacuolar, with casq1...
Myopathy with cortical and cer...
Myopathy with defiency of succ...
Myopathy with external ophthal...
Myopathy with fibre type dispr...
Myopathy with lactic acidosis,...
Myopathy with lobulated muscle...
Myopathy with postural muscle ...
Myopathy with ptosis and mild ...
Myopathy, X-linked, with exces...
Myopia
Myopia 22, autosomal dominant
Myopia 25, autosomal dominant
MYOPIA 26, X-LINKED, FEMALE-LI...
Myopia 6
Myopia high-grade
Myopia, high, with cataract an...
Myosclerosis
Myosclerosis, autosomal recess...
Myosin storage myopathy
Myostatin-related muscle hyper...
Myotilinopathy
Myotonia
Myotonia Becker
Myotonia congenita
Myotonia congenita, atypical, ...
Myotonia congenita with scolio...
Myotonia generalised
Myotonia levior
Myotonia neonatal-onset
Myotonia non-dystrophic
Myotonia & periodic paralysis
Myotonia potassium-aggravated
Myotonia Thomsen
Myotonic dystrophy
Myotonic dystrophy type 1
Myotonic dystrophy type 2
Myotubular myopathy
N-acetylgalactosaminidase alph...
N-acetylglutamate synthase def...
NADH-cyb5R deficiency type 1
NAD P HX dehydratase deficienc...
Nager acrofacial dysostosis
Nager syndrome
Nail clubbing
Nail disease
Nail dystrophy
Nail patella-like renal diseas...
Nail patella syndrome
Nail-patella syndrome
Nail patella syndrome modifier...
Nakajo-Nishimura syndrome
Nakajo syndrome
Nanophthalmos
Nanophthalmos 4
Nanophthalmos and retinal dyst...
Narcolepsy 1
Narcolepsy 7
Narcolepsy early onset
Narcolepsy with cataplexy
Narrow chest
Narrow palate
Nasal malformations & parietal...
Nasopharyngeal carcinoma susce...
Nasu-Hakola disease
Native American myopathy
Natural killer cell and glucoc...
Navajo neurohepatopathy
Naxos-Carvajal syndrome
Naxos disease
Nemaline myopathy
Nemaline myopathy 1
Nemaline myopathy 10
Nemaline myopathy 3
Nemaline myopathy 3, autosomal...
Nemaline myopathy 4
Nemaline myopathy 5
Nemaline myopathy 6
Nemaline myopathy 7
Nemaline myopathy 8
Nemaline myopathy 9
Nemaline myopathy and dilated ...
Nemaline myopathy and hypertro...
Nemaline Myopathy, Dominant
Nemaline Myopathy, Recessive
Nemaline myopathy type 6
Neonatal adrenoleucodystrophy
Neonatal adrenoleukodystrophy
Neonatal cyanosis
Neonatal cyanosis & anaemia
Neonatal death
Neonatal diabetes mellitus
Neonatal encephalopathy severe
Neonatal epilepsy late-onset a...
Neonatal hypotonia
Neonatal-infantile seizures
Neonatal-infantile seizures be...
Neonatal insulin-dependent dia...
Neonatal intrahepatic cholesta...
Neonatal lactic acidosis with ...
Neonatal mitochondrial leukoen...
Neonatal-onset epilepsy muscul...
Neonatal pseudo-hydrocephalic ...
Neonatal respiratory distress ...
Neonatal seizure disorder & ep...
Neonatal seizures
Neonatal severe hyperparathyro...
Neoplasm
Neoplasm of brain
Neoplasm of ovary
Neoplasm of stomach
Neoplasm of the breast
Neoplasm of the large intestin...
Neoplasm of the liver
Neoplasm of the thyroid gland
Nephritis
Nephrocalcinosis
Nephrocalcinosis and chronic k...
Nephrocalcinosis and hypercalc...
Nephrocalcinosis hypercalciuri...
Nephrogenic diabetes insipidus
Nephrogenic diabetes insipidus...
Nephrogenic diabetes insipidus...
Nephrogenic syndrome of inappr...
Nephrolithiasis
Nephrolithiasis/bone demineral...
Nephrolithiasis hypercalciuric
Nephrolithiasis-like phenotype
Nephrolithiasis/nephrocalcinos...
Nephrolithiasis/nephrocalcinos...
Nephrolithiasis/osteoporosis, ...
Nephrolithiasis/osteoporosis, ...
Nephrolithiasis, X-linked rece...
Nephronophthisis
Nephronophthisis 1
Nephronophthisis 12
Nephronophthisis 15
Nephronophthisis 16
Nephronophthisis 19
Nephronophthisis 1 with COMA
Nephronophthisis 2
Nephronophthisis 20
Nephronophthisis 3
Nephronophthisis 3/Renal-hepat...
Nephronophthisis 9
Nephronophthisis and retinal d...
Nephronophthisis infantile
Nephronophthisis-Like Nephropa...
Nephronophthisis-like nephropa...
Nephronophthisis-related cilio...
Nephropathic cystinosis
Nephropathy
Nephropathy interstitial
Nephrotic proteinuria
Nephrotic proteinuria with foc...
Nephrotic syndrome
Nephrotic syndrome 4
Nephrotic syndrome 7
Nephrotic syndrome and interst...
Nephrotic syndrome and renal a...
Nephrotic syndrome childhood-o...
Nephrotic syndrome congenital
Nephrotic syndrome, idiopathic...
Nephrotic syndrome interstitia...
Nephrotic syndrome late onset
Nephrotic syndrome steroid res...
Nephrotic syndrome steroid res...
Nephrotic syndrome steroid sen...
Nephrotic syndrome, type 10
Nephrotic syndrome, type 11
Nephrotic syndrome, type 12
Nephrotic syndrome, type 13
Nephrotic syndrome type 14
Nephrotic syndrome type 16
NEPHROTIC SYNDROME, TYPE 17
NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 20
Nephrotic syndrome, type 5, wi...
Nephrotic syndrome, type 7
Nephrotic syndrome, type 8
Nephrotic syndrome, type 9
Nephrotic syndrome with sensor...
Nestor-Guillermo progeria synd...
Neu-Laxova syndrome
Neu-Laxova syndrome 1
Neu-laxova syndrome 2
Neural and nonneural tumours
Neural tube defect
Neural tube defects
Neural tube defects, folate-se...
Neural tube defects myelomenin...
Neuroaxonal dystrophy
Neuroaxonal dystrophy atypical...
Neuroaxonal dystrophy infantil...
Neuroblastoma
Neuroblastoma 3
Neuroblastoma & nephroblastoma
Neuroblastoma Susceptibility
Neurocutaneous syndrome autoso...
Neurodegeneration
Neurodegeneration beta-propell...
Neurodegeneration & cerebellar...
NEURODEGENERATION, CHILDHOOD-O...
NEURODEGENERATION, CHILDHOOD-O...
Neurodegeneration due to 3-hyd...
Neurodegeneration infantile & ...
Neurodegeneration mitochondria...
Neurodegeneration progressive ...
Neurodegeneration progressive ...
Neurodegeneration with brain i...
Neurodegeneration with brain i...
Neurodegeneration with brain i...
Neurodegeneration with brain i...
Neurodegeneration with brain i...
Neurodegeneration with brain i...
NEURODEGENERATION WITH BRAIN I...
NEURODEGENERATION WITH BRAIN I...
Neurodegeneration with develop...
Neurodegeneration X-linked
Neurodegenerative brainstem di...
Neurodegenerative disease
Neurodegenerative disorder
Neurodegenerative disorder inf...
Neurodegenerative encephalopat...
Neurodegenerative syndrome
Neurodegeration developmental ...
Neurodevelopmental abnormaliti...
Neurodevelopmental abnormality
Neurodevelopmental and cardiac...
Neurodevelopmental delay and h...
Neurodevelopmental delay and h...
Neurodevelopmental delay and l...
Neurodevelopmental delay & dis...
Neurodevelopmental delay febri...
Neurodevelopmental delay & hyp...
Neurodevelopmental delay hypot...
Neurodevelopmental delay hypot...
Neurodevelopmental delay infan...
Neurodevelopmental disease sev...
Neurodevelopmental disorder
Neurodevelopmental disorder an...
NEURODEVELOPMENTAL DISORDER AN...
Neurodevelopmental disorder ep...
NEURODEVELOPMENTAL DISORDER, M...
Neurodevelopmental disorders a...
Neurodevelopmental disorders a...
Neurodevelopmental disorder se...
Neurodevelopmental disorders i...
NEURODEVELOPMENTAL DISORDER WI...
Neurodevelopmental disorder wi...
Neurodevelopmental disorder wi...
NEURODEVELOPMENTAL DISORDER WI...
NEURODEVELOPMENTAL DISORDER WI...
NEURODEVELOPMENTAL DISORDER WI...
Neurodevelopmental disorder wi...
Neurodevelopmental disorder wi...
Neurodevelopmental disorder wi...
NEURODEVELOPMENTAL DISORDER WI...
NEURODEVELOPMENTAL DISORDER WI...
NEURODEVELOPMENTAL DISORDER WI...
Neurodevelopmental disorder wi...
NEURODEVELOPMENTAL DISORDER WI...
NEURODEVELOPMENTAL DISORDER WI...
Neurodevelopmental disorder wi...
Neurodevelopmental disorder wi...
NEURODEVELOPMENTAL DISORDER WI...
NEURODEVELOPMENTAL DISORDER WI...
NEURODEVELOPMENTAL DISORDER WI...
NEURODEVELOPMENTAL DISORDER WI...
NEURODEVELOPMENTAL DISORDER WI...
NEURODEVELOPMENTAL DISORDER WI...
Neurodevelopmental epileptic e...
Neurodevelopmental syndrome wi...
Neuroendocrine cell hyperplasi...
Neuroepithelial neoplasm
Neuroferritinopathy
Neurofibromas
Neurofibromatosis
Neurofibromatosis 1
Neurofibromatosis 1 and breast...
Neurofibromatosis 1-like syndr...
Neurofibromatosis 2
Neurofibromatosis, familial sp...
Neurofibromatosis-Noonan syndr...
Neurofibromatosis spinal
Neurofibromatosis, type 1
Neurofibromatosis, type 2
Neurofibrosarcoma
Neurogenic bladder
Neurohypophyseal diabetes insi...
Neuro-immuno-skeletal dysplasi...
Neurological disease
Neurological disease paediatri...
Neurological disorder
Neurological disorder severe
Neurological dysfunction HPRT1...
Neurological phenotype and vis...
Neurological symptoms
Neurological syndrome
Neurologic & psychiatric disor...
Neurologic syndrome
Neurology pediatric
Neuromuscular disease, congeni...
Neuromuscular Diseases
Neuromuscular disorder
Neuronal affection
Neuronal ceroid lipofuscinoses...
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis...
Neuronal ceroid lipofuscinosis...
Neuronal ceroid lipofuscinosis...
Neuronal ceroid lipofuscinosis...
Neuronal Ceroid-Lipofuscinosis...
Neuronal ceroid lipofuscinosis...
Neuronal ceroid lipofuscinosis...
Neuronal ceroid lipofuscinosis...
Neuronal Ceroid-Lipofuscinosis...
NEURONOPATHY, DISTAL HEREDITAR...
Neuronopathy, distal hereditar...
Neuropathic pain in diabetic p...
Neuropathy
Neuropathy and bilateral stria...
Neuropathy axonal
Neuropathy congenital hypomyel...
Neuropathy distal hereditary m...
Neuropathy distal hereditary m...
Neuropathy distal hereditary m...
Neuropathy distal hereditary m...
Neuropathy early onset
Neuropathy hereditary
Neuropathy, hereditary motor a...
Neuropathy, hereditary motor a...
NEUROPATHY, HEREDITARY MOTOR A...
NEUROPATHY, HEREDITARY MOTOR A...
Neuropathy hereditary sensory ...
NEUROPATHY, HEREDITARY SENSORY...
Neuropathy, hereditary sensory...
Neuropathy, hereditary sensory...
Neuropathy hereditary sensory ...
NEUROPATHY, HEREDITARY SENSORY...
Neuropathy, hereditary sensory...
Neuropathy infantile-onset
Neuropathy liability to pressu...
Neuropathy motor / sensory int...
Neuro-regression rapid onset
Neurosensory deafness
Neutral 1 amino acid transport...
Neutral lipid storage disease ...
Neutral lipid storage disease ...
Neutropaenia
Neutropaenia and moderate macr...
Neutropaenia congenital
Neutropaenia congenital and in...
Neutropaenia cyclic
Neutropaenia neutrophil dysfun...
Neutropaenia severe congenital...
Neutropaenia thrombasthenia & ...
Neutropaenia with cardiac and ...
Neutropaenia with myelofibrosi...
Neutropaenia with neurological...
Neutropenia, nonimmune chronic...
Neutropenia, severe congenital...
Neutropenia, severe congenital...
Neutrophil dysfunction and rec...
Neutrophilic dermatosis
Neutrophil immunodeficiency sy...
Nevoid basal cell carcinoma sy...
Nevus comedonicus
Nevus sebaceous
NFU1 deficiency
NGLY1 deficiency
Nicolaides-Baraitser syndrome
Niemann-Pick disease
Niemann-Pick disease, type A
Niemann-Pick disease type B
Niemann-Pick disease, type B
Niemann-Pick disease type C
Niemann-Pick disease, type C
Niemann-Pick disease type C1
Niemann-Pick disease, type C1,...
Niemann-Pick disease, type C1,...
Niemann-Pick disease type C2
Niemann-Pick disease type C pr...
Niemann-Pick disease type C wi...
Niemann-Pick disease type D
Niemann-Pick type II disease
Nightblindness-associated tran...
Night blindness autosomal rece...
Night blindness congenital
Night blindness congenital sta...
Nightblindness congenital stat...
Night blindness congenital sta...
Night blindness, congenital st...
Night blindness, congenital st...
Nightblindness stationary
N-linked glycosylation disorde...
Nob-syndromic cleft lip and/or...
Nocturnal frontal lobe epileps...
Nocturnal frontal lobe epileps...
Nocturnal frontal lobe epileps...
NOMID/CINCA/Muckle-Wells syndr...
NOMID/CINCA syndrome
NOMID with severe mental retar...
Non-alcoholic fatty liver dise...
Non-classic 21-hydroxylase def...
Non-classical 11 beta hydroxyl...
Noncompaction left ventricular
Noncompaction left ventricular...
Noncompaction left ventricular...
Nonepidermolytic palmoplantar ...
Non-Hodgkin lymphoma
Non-immune hydrops fetalis
Non-immune hydrops hypotonia e...
Non-ketotic hyperglycinemia
Non-obstructive azoospermia
Nonpersistence of intestinal l...
Non-small cell lung cancer
Non-small-cell lung cancer
Nonsyndromic congenital retina...
Nonsyndromic deafness
Nonsyndromic Deafness
Non-syndromic hearing loss
Nonsyndromic hearing loss and ...
Non-syndromic hearing loss aut...
Nonsyndromic Hearing Loss, Dom...
Nonsyndromic Hearing Loss, Mix...
Nonsyndromic Hearing Loss, Rec...
Nonsyndromic hearing loss X-li...
Non-syndromic oligodontia
Nonsyndromic otitis media
Non-syndromic retinal degenera...
Non-syndromic trigonocephaly
Non-syndromic X-linked intelle...
Noonan-like syndrome
Noonan-Like Syndrome Disorder
Noonan-like syndrome with loos...
Noonan syndrome
Noonan syndrome 1
Noonan syndrome 10
NOONAN SYNDROME 11
Noonan syndrome 2
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 6
Noonan syndrome 8
Noonan syndrome 9
Noonan syndrome and craniosyno...
Noonan syndrome and Noonan-rel...
Noonan syndrome-like
Noonan syndrome-like disorder ...
Noonan syndrome-like disorder ...
Noonan syndrome-like disorder ...
Noonan syndrome-like disorder ...
Noonan syndrome & neurofibroma...
Noonan syndrome with cardiac h...
Noonan syndrome with juvenile ...
Noonan syndrome with multifoca...
Noonan syndrome with multiple ...
Noonan syndrome with multiple ...
Noonan syndrome with neuroblas...
Norepinephrine deficiency
Normocytic anaemia and astheni...
Normokalaemic periodic paralys...
Normokalaemic periodic paralys...
Normokalemic periodic paralysi...
NOR polyagglutination
Norrie disease
North american indian childhoo...
Norum disease
not provided
not specified
NPHP-like kidney disease
N-terminal acetyltransferase d...
Nuclear cataracts with microph...
Nuclear envelopathy with proge...
Nuclearly-encoded mitochondria...
Nuclearly-encoded mitochondria...
Nuclearly-encoded mitochondria...
Nuclear pulverulent cataract
Nuclear punctate cataract
Nucleoside phosphorylase defic...
Nystagmus
Nystagmus 1 X-linked
Nystagmus 6, congenital, X-lin...
Nystagmus autosomal dominant f...
Nystagmus idiopathic
Nystagmus infantile periodic a...
Nystagmus infantile X-linked
Nystagmus microcephaly dystoni...
Nystagmus sudden opistotonic p...
Nystagmus with cataract & iris...
Obesity
Obesity and developmental dela...
Obesity and impaired prohormon...
Obesity and insulin resistance
Obesity autosomal dominant
Obesity, autosomal dominant
Obesity & diabetes type 2 earl...
Obesity early onset
Obesity early-onset
Obesity early-onset & metaboli...
Obesity early-onset severe
Obesity hyperphagia and develo...
Obesity, hyperphagia, and deve...
Obesity insulin resistance fat...
Obesity, mild, early-onset
Obesity morbid
Obesity severe
Obesity, severe, and type II d...
Obesity severe early-onset
Obesity severe with diabetes
Oblique facial clefting
Obsessive-compulsive disorder
Obstructive azoospermia
Obstructive lung disease
Occipital horn syndrome
Occlusive cerebrovascular dise...
Ochoa syndrome
Ocular albinism
Ocular albinism, type I
Ocular albinism, type II
Ocular albinism X-linked
Ocular anterior segment anomal...
Ocular anterior segment diseas...
Ocular coloboma
Ocular coloboma microphthalmia...
Ocular development anomalies
Ocular dysmotility
Ocular malformation
Ocular malformations
Ocular melanocytosis
Ocular melanoma
Ocular myopathy
Ocular & skeletal abnormalitie...
Ocular telangiectasia
Oculo-auricular syndrome
Oculoauricular syndrome
Oculocutaneous albinism
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1...
Oculocutaneous albinism type 1...
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4
Oculodentodigital dysplasia
Oculodentodigital dysplasia, a...
Oculodentodigital dysplasia wi...
Oculodentodigital dysplasia wi...
Oculoectodermal syndrome
Oculomaxillofacial dysostosis
Oculomotor apraxia
Oculopharyngeal muscular dystr...
Odontogenic keratocysts
Odonto-onycho-dermal dysplasia
Odontoonychodermal dysplasia
Odontotrichomelic syndrome
Oedema prenatal generalised
Oesophageal cancer
Oesophageal carcinoma
Oesophageal squamous cell carc...
Oesophageal tumours
Oestrogen resistance
Oguchi disease
Oguchi disease 2
Ohdo blepharophimosis syndrome...
Ohtahara syndrome
Ohtahara syndrome early infant...
Ohtahara syndrome with hyperto...
Ohtahara / West syndrome
Ohtahara/West syndrome
Oi/eds combined syndrome
Okt4 epitope deficiency
Okur-chung neurodevelopmental ...
Okur-Chung neurodevelopmental ...
Oligocone trichromacy
Oligodendroglioma, anaplastic
Oligodontia
Oligodontia autosomal dominant
Oligodontia-colorectal cancer ...
Oligodontia molar
Oligospermia
Oligosynaptic infertility
Oligozoospermia
Oligozoospermia severe
Olivopontocerebellar hypoplasi...
Ollier disease
Olmsted-like syndrome
Olmsted syndrome
Olmsted syndrome atypical
Olmsted syndrome & erythromela...
Omenn syndrome
Omodysplasia
Omodysplasia autosomal dominan...
Oncocytic thyroid carcinoma
Oocyte maturation arrest
Oocyte maturation defect 1
OOCYTE MATURATION DEFECT 3
OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 5
OOCYTE MATURATION DEFECT 6
Open mouth
Ophthalmoplegia and malignant ...
Opitz G/BBB syndrome
Opitz GBBB syndrome, type I
Opitz GBBB syndrome, type II
Opitz-Kaveggia syndrome
Opsismodysplasia
Opsoclonus myoclonus ataxia-li...
Optic atrophy
Optic atrophy 1
Optic atrophy 10 with or witho...
Optic atrophy 11
Optic atrophy 5
Optic atrophy 9
Optic atrophy acute & late ons...
Optic atrophy and cataract
Optic atrophy and cataract, au...
Optic atrophy and deafness
Optic atrophy ataxia myopathy
Optic atrophy ataxia & neuropa...
Optic atrophy ataxia & spastic...
Optic atrophy & auditory neuro...
Optic atrophy autosomal domina...
Optic atrophy axonal neuropath...
Optic atrophy cataracts lipody...
Optic atrophy & cerebellar atr...
Optic atrophy childhood-onset ...
Optic atrophy chorea cerebella...
Optic atrophy & deafness
Optic atrophy deafness & ataxi...
Optic atrophy dominant
Optic Atrophy, Dominant
Optic atrophy early-onset
Optic atrophy nonsyndromic
Optic atrophy plus
Optic atrophy plus syndrome
Optic Atrophy, Recessive
Optic atrophy sensorimotor neu...
Optic atrophy with intellectua...
Optic atrophy with mild intell...
Optic disc anomalies & macular...
Optic nerve abnormalities
Optic nerve aplasia, bilateral
Optic nerve hypoplasia
Optic nerve hypoplasia and abn...
Optic-nerve malformations
Optic neuropathy
Optic neuropathy early-onset
Oral anticoagulant resistance
Oral-facial-digital syndrome
Oral-facial-digital syndrome I
Oral-facial-digital syndrome I...
Oral-facial-digital syndrome I...
Orbicularis oris defect
Ornithine aminotransferase def...
Ornithine carbamoyltransferase...
Ornithine transcarbamylase def...
Ornithine transcarbamylase def...
Orofacial cleft
Orofacial cleft 10
Orofacial cleft 11
Orofacial cleft 5
Orofacial cleft 8
Orofacial clefting
Orofacial-digital syndrome IV
Orofaciodigital syndrome 5
Orofaciodigital syndrome I
OROFACIODIGITAL SYNDROME XVI
OROFACIODIGITAL SYNDROME XVIII
Oromandibular-limb hypogenesis...
Oropharyngeal cancer syndrome
Orotic aciduria
Oroticaciduria 1
Orotic aciduria mild
Orthostatic hypotension
Orthostatic hypotension 1
ORTHOSTATIC HYPOTENSION 2
Orthostatic intolerance
Orthostatic intolerance and ta...
Osteoarthritis
Osteoarthritis early-onset
Osteoarthritis early progressi...
Osteoarthritis metatarsophalan...
Osteoarthritis of distal inter...
Osteoarthritis with mild chond...
Osteoarthropathy hypertrophic
Osteoblastic Osteosarcoma
Osteochondrodysplasia
Osteochondrodysplasia lethal P...
Osteochondroma
Osteocraniostenosis
Osteogenesis imperfecta
Osteogenesis imperfecta autoso...
Osteogenesis imperfecta autoso...
Osteogenesis imperfecta autoso...
Osteogenesis imperfecta / Bruc...
Osteogenesis imperfecta/Ehlers...
Osteogenesis imperfecta/Grant ...
Osteogenesis imperfecta high b...
Osteogenesis imperfecta I
Osteogenesis imperfecta IA
Osteogenesis imperfecta II
Osteogenesis imperfecta IIA
Osteogenesis imperfecta IIC
Osteogenesis imperfecta III
Osteogenesis imperfecta II/III
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta I & va...
Osteogenesis imperfecta IX
Osteogenesis imperfecta recess...
Osteogenesis Imperfecta, Reces...
Osteogenesis imperfecta, reces...
Osteogenesis imperfecta severe
Osteogenesis imperfecta type 1...
Osteogenesis imperfecta type 1...
Osteogenesis imperfecta type 1...
Osteogenesis imperfecta type 2...
Osteogenesis imperfecta type 5
Osteogenesis imperfecta type 7
Osteogenesis imperfecta type 8
Osteogenesis imperfecta type 9
Osteogenesis imperfecta type I
OSTEOGENESIS IMPERFECTA, TYPE ...
Osteogenesis imperfecta type I...
Osteogenesis imperfecta, type ...
Osteogenesis imperfecta, type ...
Osteogenesis imperfecta type X
Osteogenesis imperfecta, type ...
Osteogenesis imperfecta, type ...
Osteogenesis imperfecta, type ...
Osteogenesis imperfecta with n...
Osteogenesis imperfecta XIII
Osteoglophonic dysplasia
Osteolysis idiopathic Saudi ty...
Osteomalacia hypophosphataemic
Osteomyelitis, sterile multifo...
Osteopaenia with arterial rupt...
Osteopetrosis
Osteopetrosis atypical
Osteopetrosis autosomal domina...
Osteopetrosis autosomal domina...
Osteopetrosis autosomal recess...
Osteopetrosis autosomal recess...
Osteopetrosis autosomal recess...
Osteopetrosis autosomal recess...
Osteopetrosis autosomal recess...
Osteopetrosis, autosomal reces...
Osteopetrosis autosomal recess...
Osteopetrosis benign autosomal...
Osteopetrosis infantile autoso...
Osteopetrosis infantile malign...
Osteopetrosis intermediate and...
Osteopetrosis RANK-dependent a...
Osteopetrosis with distal RTA
Osteopetrosis with renal tubul...
Osteoporosis
Osteoporosis early-onset
Osteoporosis juvenile
Osteoporosis primary
Osteoporosis-pseudoglioma synd...
Osteoporosis with hypophosphat...
Osteoporosis with pseudoglioma
Osteoporosis X-linked with fra...
Osteosarcoma
Osteosclerosis
Osteosclerotic bone dysplasia ...
Osteosclerotic bone dysplasia ...
Otitis media susceptibility to
Otitis media, susceptibility t...
Otofaciocervical syndrome
Otofaciocervical syndrome 1
Otofaciocervical syndrome 2
Otopalatodigital spectrum diso...
Otopalatodigital syndrome
Otopalatodigital syndrome 1
Otopalatodigital syndrome 2
Oto-palato-digital syndrome, t...
Oto-palato-digital syndrome, t...
Otosclerosis
Otospondylomegaepiphyseal dysp...
Otospondylomegaepiphyseal dysp...
Otospondylomegaepiphyseal dysp...
OTULIN-related autoinflammator...
Ovarian cancer
Ovarian cancer susceptibility ...
Ovarian carcinoma
Ovarian dysgenesis
Ovarian dysgenesis 1
Ovarian dysgenesis 2
Ovarian dysgenesis 3
OVARIAN DYSGENESIS 6
OVARIAN DYSGENESIS 8
Ovarian epithelial tumours ear...
Ovarian failure
Ovarian failure primary
Ovarian hyperstimulation syndr...
Ovarian insufficiency
Ovarian insufficiency primary
Ovarian mucinous cystadenoma
Ovarian Neoplasms
Ovarioleukodystrophy
Overgrowth
Overgrowth dysmorphism and lea...
Overgrowth & Loeys-Dietz syndr...
Overgrowth macrocephaly and in...
Overgrowth syndrome with intel...
Overgrowth syndrome with intel...
Overgrowth syndrome with neuro...
Overweight and developmental d...
Ovotesticular/testicular disor...
Oxidative phophorylation defic...
OXPHOS complex I and IV defici...
OXPHOS deficiency
OXPHOS deficiency combined
P450scc deficiency
Pachydermoperiostosis
Pachydermoperiostosis syndrome
Pachygyria
Pachygyria bilateral regional
Pachyonychia congenita
Pachyonychia congenita 1
Pachyonychia congenita 2
Pachyonychia congenita 3
Pachyonychia congenita 4
Pachyonychia congenita syndrom...
Paediatric cataract
Paediatric cataract with nysta...
Paediatric nuclear cataract
Paediatric posterior polar cat...
Paediatric total cataract with...
Paediatric total cataract with...
PAF acetylhydrolase deficiency
PAGANINI-MIOZZO SYNDROME
Paget disease juvenile
Paget disease of bone
Paget disease of bone and myop...
Pagets disease bone
Pain dysautonomia & acromesome...
Painful peripheral neuropathy ...
Pain insensitivity congenital
Pain insensitivity congenital ...
Palmoplantar blistering
Palmoplantar carcinoma, multip...
Palmoplantar keratoderma
Palmoplantar keratoderma and w...
Palmoplantar keratoderma, epid...
Palmoplantar keratoderma & exu...
Palmoplantar keratoderma Gambo...
Palmoplantar keratoderma, muti...
Palmoplantar keratoderma, none...
Palmoplantar keratoderma, none...
Palmoplantar keratoderma with ...
Palmoplantar keratoderma with ...
Palmoplantar keratosis Nagashi...
Palpitations
Pancreatic adenocarcinoma
Pancreatic agenesis
Pancreatic agenesis and congen...
Pancreatic agenesis, congenita...
Pancreatic cancer
Pancreatic cysts
Pancreatic ductal adenocarcino...
Pancreatic lipase deficiency
Pancreatic Neoplasms
Pancreatitis
Pancreatitis alcohol-related
Pancreatitis and reproductive ...
Pancreatitis autoimmune
Pancreatitis chronic
Pancreatitis hereditary
Pancreatitis tropical
Pancytopaenia
Pancytopaenia exocrine pancrea...
Pancytopenia
Panhypopituitarism
Pantothenate kinase-associated...
Pantothenate kinase-associated...
PAPASH syndrome
PAPA syndrome
Papillary renal carcinoma
Papillary renal cell carcinoma
Papillary renal cell carcinoma...
Papillary thyroid carcinoma
Papillary thyroid carcinoma su...
Papillomatous pedunculated seb...
Papillon-Lefevre syndrome
Papillon-Lefèvre syndrome
Papillorenal syndrome
Papillorenal syndrome with mac...
Papulosquamous eruption
Para-Bombay phenotype
Paracoccidioidomycosis
Paraganglioma
Paraganglioma and phaeochromoc...
Paraganglioma & phaeochromocyt...
Paraganglioma/phaeochromocytom...
Paragangliomas 4
Paragangliomas 5
PARAGANGLIOMAS 6
PARAGANGLIOMAS 7
Paramyotonia congenita
Paramyotonia congenita/hyperka...
Paramyotonia congenita of von ...
Paramyotonia congenita / sodiu...
Paramyotonia congenita von Eul...
Parathyroid adenoma
Parathyroid carcinoma
Parathyroid hyperplasia
Parathyroid tumour
Parietal foramina
Parietal foramina 1
Parietal foramina 2
Parkinson disease
Parkinson disease 1
Parkinson disease 11
Parkinson disease 13
Parkinson disease 14
Parkinson disease 15
Parkinson disease 17
Parkinson disease 18
Parkinson disease 19a, juvenil...
Parkinson disease 19b, early-o...
Parkinson disease 2
Parkinson disease 20, early-on...
Parkinson disease 22, autosoma...
Parkinson disease 6, autosomal...
Parkinson disease 7
Parkinson disease 8, autosomal...
Parkinson disease 9
Parkinson disease and ADHD
Parkinson disease autosomal do...
Parkinson disease autosomal do...
Parkinson disease autosomal re...
Parkinson disease, autosomal r...
Parkinson Disease, Dominant
Parkinson Disease, Dominant/Re...
Parkinson disease early onset
Parkinson disease early-onset
Parkinson disease familial
Parkinson disease increased ri...
Parkinson Disease, Juvenile
Parkinson disease late-onset
Parkinson disease, late-onset
Parkinson diseaselate onset
Parkinson disease late-onset a...
Parkinson Disease, Recessive
Parkinson disease sporadic
Parkinson disease with dementi...
Parkinson disease young-onset
Parkinsonian disorder infantil...
Parkinsonian-pyramidal syndrom...
Parkinsonism
Parkinsonism & amyotrophic la...
Parkinsonism-dystonia, infanti...
Parkinsonism-dystonia, infanti...
Parkinsonism early-onset
Parkinsonism early-onset & cog...
Parkinsonism early-onset with ...
Parkinsonism, early onset with...
Parkinsonism infantile
Parkinsonism infantile-onset l...
Parkinsonism juvenile
Parkinsonism juvenile autosoma...
Parkinsonism late-onset
Parkinsonism L-DOPA-responsive
Parkinsonism L-DOPA-responsive...
Parkinsonism pyramidal disturb...
Paroxysmal atrial fibrillation
Paroxysmal dyskinesia
Paroxysmal dyskinesia exertion...
Paroxysmal dyskinesia exertion...
Paroxysmal dyskinesia exertion...
Paroxysmal dyskinesia kinesige...
Paroxysmal dystonia
Paroxysmal extreme pain disord...
Paroxysmal extreme pain disord...
Paroxysmal familial ventricula...
Paroxysmal kinesigenic choreoa...
Paroxysmal kinesigenic dyskine...
Paroxysmal kinesigenic dyskine...
Paroxysmal kinesigenic dyskine...
Paroxysmal kinesigenic dyskine...
Paroxysmal non-kinesigenic dys...
Paroxysmal nonkinesigenic dysk...
Paroxysmal nonkinesiogenic dys...
Paroxysmal weakness and enceph...
Partial albinism
Partial androgen insensitivity...
Partial congenital absence of ...
Partial epilepsy
Partial epilepsy atypical beni...
Partial hypoxanthine-guanine p...
Partial iodide organification ...
Partial lipodystrophy
Partial lipodystrophy atypical
Partial lipodystrophy Dunnigan
Partial lipodystrophy type 2
Partial seizures & infantile s...
Partial seizures with intellec...
Patellar dislocation
Patent ductus arteriosus
Patent ductus arteriosus 3
Patent ductus arteriosus isola...
Pattern dystrophy
Pattern dystrophy autosomal do...
Pearson marrow-pancreas syndro...
Pectus excavatum
Pediatric movement disorder
Peeling skin syndrome 1
Peeling skin syndrome 2
Peeling skin syndrome 3
PEHO-like syndrome
PEHO syndrome
Pelger-Huet anomaly
Pelger-Huët anomaly
PELGER-HUET ANOMALY WITH MILD ...
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher-like dise...
Pelvic organ prolapse
Pena-Shokeir syndrome type I
Pendred syndrome
Pendred syndrome/DFNB4
Pendred syndrome hearing loss
Penoscrotal hypospadias & hype...
Penttinen syndrome autosomal d...
Pericardial effusion
Perinatal mitochondrial hypert...
Periodic fever atypical
Periodic fever autosomal domin...
Periodic fever syndrome
Periodic fever with AA amyloid...
Periodic fever with amyloidosi...
Periodic paralysis
Periodontitis
Periodontitis, aggressive, 1
Periodontitis juvenile
Peripheral axonal neuropathy
Peripheral cone dystrophy
Peripheral demyelinating neuro...
Peripheral demyelinating neuro...
Peripheral demyelinating neuro...
Peripheral nerve hyperexcitabi...
Peripheral neuropathy
Peripheral neuropathy and corp...
Peripheral neuropathy in Charc...
Peripheral neuropathy myopathy...
Peripheral neuropathy, myopath...
Peripheral neuropathy with gas...
Peripheral neuropathy with int...
Perisylvian polymicrogyria
Peritoneal carcinoma
Peritoneal Gliomatosis
Peritoneal mesothelioma
Periventricular heterotopia
Periventricular Heterotopia
Periventricular neuronal heter...
Periventricular nodular hetero...
Periventricular nodular hetero...
Periventricular nodular hetero...
PERIVENTRICULAR NODULAR HETERO...
Periventricular nodular hetero...
Perlman syndrome
Permanent neonatal diabetes me...
Peroneal myoatrophy
Peroxisomal acyl-CoA oxidase d...
Peroxisomal biogenesis disorde...
Peroxisomal biogenesis disorde...
Peroxisomal fatty acyl-CoA red...
Peroxisomal fatty acyl-coa red...
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Peroxisome biogenesis disorder...
Perrault syndrome
Perrault syndrome 1
Perrault syndrome 2
Perrault syndrome 3
Perrault syndrome 4
Perrault syndrome 5
Perrault syndrome 6
Perrault syndrome type-3
Perrault syndrome type II
Perrault syndrome with neuro-...
Perrault syndrome with neurolo...
Perry syndrome
Persistent cloaca
Persistent fetal circulation
Persistent fetal vasculature
Persistent hyperplasia of the ...
Persistent hyperplastic primar...
Persistent hyperplastic primar...
Persistent Mullerian duct synd...
Persistent Müllerian duct synd...
Persistent mullerian duct synd...
Persistent truncus arteriosus
Peter anomaly
Peters' anomaly
Peters' anomaly with cataracts
Peters anomaly with rudimentar...
Peters plus syndrome
Peters-Plus syndrome
Pettigrew syndrome
Peutz-Jeghers syndrome
PFAPA syndrome
Pfeiffer syndrome
P-glycoprotein deficiency
Phacomatosis pigmentokeratotic...
Phaeochromocytoma
Phaeochromocytoma and paragang...
Phaeochromocytoma & paragangli...
Phaeochromocytoma/paragangliom...
Phaeochromocytoma-paragangliom...
Phenotype modifier
Phenylalanine hydroxylase defi...
Phenylketonuria
Pheochromocytoma
Pheochromocytoma/paraganglioma
Pheochromocytoma/paraganglioma...
Phosphoenolpyruvate carboxykin...
Phosphofructokinase deficiency
Phosphoglucomutase deficiency
Phosphoglycerate dehydrogenase...
Phosphoglycerate kinase 1 defi...
Phosphoglycerate kinase defici...
Phosphoglycerate mutase defici...
Phosphoglycerate mutase defici...
Phosphohydroxylysinuria
Phospholipase A2-associated ne...
Phosphoribosylpyrophosphate sy...
Phosphoribosylpyrophosphate sy...
Phosphorylase kinase deficienc...
Phosphoserine aminotransferase...
Photoparoxysmal response with ...
Phytanic acid storage disease
Phytanoyl-CoA hydroxylase defi...
Phytosterolaemia
Pick disease
Piebaldism
Piebaldism, progressive
Piebaldism with cafe-au-lait m...
Piebaldism with sensorineural ...
Pierpont syndrome
Pierre Robin sequence
Pierre Robin sequence & talipe...
Pierson syndrome
PIGA deficiency
Pigmentary disorder, reticulat...
Pigmentary pallidal degenerati...
Pigmentary retinal dystrophy
Pigment dystrophy butterfly-sh...
Pigmented hypertrichosis with ...
Pigmented nodular adrenocortic...
Pigmented nodular adrenocortic...
Pigmented nodular adrenocortic...
PIK3CA related overgrowth spec...
PILAROWSKI-BJORNSSON SYNDROME
Pili torti and nerve deafness
Pili torti-deafness syndrome
Pili torti developmental delay...
Pineal hyperplasia AND diabete...
Pitt-Hopkins-like syndrome
Pitt-Hopkins-like syndrome 1
Pitt-Hopkins-like syndrome 2
Pitt-Hopkins syndrome
Pituitary
Pituitary adenoma
PITUITARY ADENOMA 3, MULTIPLE ...
Pituitary adenoma & phaeochrom...
Pituitary blastoma
Pituitary carcinoma
Pituitary dependent hypercorti...
Pituitary hormone deficiency
Pituitary hormone deficiency c...
Pituitary hormone deficiency, ...
Pituitary hormone deficiency, ...
Pituitary hormone deficiency, ...
Pituitary hormone deficiency, ...
Pituitary hormone deficiency, ...
Pituitary hormone deficiency, ...
Pituitary hormone deficiency, ...
Pituitary hormone deficiency p...
Pituitary hormone deficiency s...
Pituitary hypoplasia
Pituitary stalk interruption s...
Pityriasis rubra pilaris
Pk synthase deficiency (p phen...
PLA2G6-associated neurodegener...
Plasma cell deficiency
Plasminogen activator inhibito...
Plasminogen activator inhibito...
Plasminogen deficiency
Plasminogen deficiency type I
Plasminogen deficiency, type I
PLATELET ABNORMALITIES WITH EO...
Platelet-activating factor ace...
Platelet ADP receptor defect
Platelet dense granule secreti...
Platelet disorder
Platelet disorder familial
Platelet disorder familial & m...
Platelet disorder familial wit...
Platelet disorder & inflammato...
Platelet function disorder
Platelet glycoprotein IV defic...
Platelet Gs hypofunction
Platelet-type bleeding disorde...
Platelet-type bleeding disorde...
Platelet-type bleeding disorde...
Platelet-type bleeding disorde...
Platelet-type bleeding disorde...
Platelet-type bleeding disorde...
Platelet-type bleeding disorde...
Platelet-type bleeding disorde...
Platelet-type bleeding disorde...
Platyspondylic skeletal dyspla...
Pleuropulmonary blastoma
Pneumonia familial interstitia...
Pneumonia idiopathic interstit...
Pneumonia interstitial
Pneumonia neonatal interstitia...
Pneumonitis desquamative inter...
Pneumothorax primary spontaneo...
PNKP deficiency
PNPO deficiency
Poikiloderma clericuzio-type w...
Poikiloderma with neutropaenia
Poikiloderma with neutropenia
POLE Exonuclease Domain Mutati...
POLG deficiency
POLG-related disorder
POLG-related disorders
POLG-Related Spectrum Disorder...
Pol III-related leukodystrophy
Polyagglutinable erythrocyte s...
Polyarteritis nodosa childhood...
Polyarteritis nodosa, childhoo...
Polyarteritis nodosa systemic ...
Polycystic kidney disease
Polycystic kidney disease 1
Polycystic kidney disease 2
POLYCYSTIC KIDNEY DISEASE 5
POLYCYSTIC KIDNEY DISEASE 6 WI...
Polycystic kidney disease, adu...
Polycystic kidney disease auto...
Polycystic kidney disease, aut...
Polycystic kidney disease auto...
Polycystic kidney disease auto...
Polycystic kidney dysplasia
Polycystic kidney & liver dise...
Polycystic lipomembranous oste...
POLYCYSTIC LIPOMEMBRANOUS OSTE...
Polycystic liver disease
Polycystic liver disease 1
Polycystic ovary syndrome
Polycythaemia
Polycythaemia vera
Polycythaemia with high epo co...
Polycythaemia with paraganglio...
Polycythemia
Polydactyly, preaxial I
Polyglandular autoimmune syndr...
Polyglucosan body disease adul...
Polyglucosan body disease, adu...
Polyglucosan body myopathy
Polyglucosan body myopathy 1 w...
Polyglucosan myopathy
Polyhydramnios
Polyhydramnios & antenatal Bar...
Polyhydramnios, megalencephaly...
Polyhydramnios talipes & cereb...
Polymerase proofreading-associ...
Polymicrogyria
Polymicrogyria, asymmetric
Polymicrogyria asymmetrical
Polymicrogyria bilateral front...
Polymicrogyria, bilateral fron...
Polymicrogyria, bilateral temp...
Polymicrogyria diffuse
Polymicrogyria-like
Polymicrogyria-like diffuse
Polymicrogyria-like perisylvia...
Polymicrogyria with dysmorphic...
Polymicrogyria with optic nerv...
POLYMICROGYRIA WITH OR WITHOUT...
Polyneuropathy
Polyneuropathy, hearing loss, ...
Polyneuropathy hearing loss at...
Polyneuropathy late-onset
Polyposis
Polyposis & gastrointestinal g...
Polyposis juvenile intestinal
Polyps, multiple and recurrent...
POMGNT1-Related Disorders
Pontocerebellar hypoplasia
Pontocerebellar hypoplasia 1
Pontocerebellar hypoplasia 2
Pontocerebellar hypoplasia 2E
Pontocerebellar hypoplasia AMP...
Pontocerebellar hypoplasia & m...
Pontocerebellar hypoplasia & p...
Pontocerebellar hypoplasia typ...
Pontocerebellar hypoplasia, ty...
PONTOCEREBELLAR HYPOPLASIA, TY...
Pontocerebellar hypoplasia typ...
Pontocerebellar hypoplasia, ty...
Pontocerebellar hypoplasia, ty...
PONTOCEREBELLAR HYPOPLASIA, TY...
Pontocerebellar hypoplasia typ...
Pontocerebellar hypoplasia typ...
Pontocerebellar hypoplasia typ...
Pontocerebellar hypoplasia typ...
Pontocerebellar hypoplasia, ty...
Pontocerebellar hypoplasia, ty...
Pontocerebellar hypoplasia typ...
Pontocerebellar hypoplasia typ...
Pontocerebellar hypoplasia, ty...
Pontocerebellar hypoplasia, ty...
Pontocerebellar hypoplasia wit...
Pontoneocerebellar hypoplasia
Poor growth developmental dela...
Popliteal pterygium syndrome
Popliteal pterygium syndrome l...
POR deficiency
Porencephalic cyst
Porencephaly
Porencephaly 2
Porencephaly and schizencephal...
Porencephaly bilateral
Porencephaly familial
Porencephaly prenatal
Porencephaly type II
Porencephaly unilateral
Porencephaly with cataracts
Porencephaly with microangiopa...
Poretti Boltshauser syndrome
Poretti-Boltshauser syndrome
Porokeratosis
Porokeratosis 7, multiple type...
Porokeratosis 8, disseminated ...
Porokeratosis 9, multiple type...
Porokeratosis disseminated sup...
Porokeratosis, disseminated su...
Porphobilinogen synthase defic...
Porphyria
Porphyria, acute hepatic, dige...
Porphyria acute intermittent
Porphyria congenital erythropo...
Porphyria cutanea tarda
Porphyria erythropoietic
Porphyria hepatoerythropoietic
Porphyria variegate
Postaxial polydactyly type A
Postaxial polydactyly type A6
Posterior column ataxia & reti...
Posterior column ataxia with r...
Posterior cortical atrophy
Posterior microphthalmos
Posterior polar cataract
Posterior polymorphous corneal...
Posterior Polymorphous Corneal...
Posterior polymorphous dystrop...
Post fossa malformation
Post-ictal hemiparesis
Postmenopausal osteoporosis
Potassium aggravated myotonia
Prader-Willi syndrome
Pravastatin-induced myopathy
Preaxial polydactyly
Pre-axial polydactyly autosoma...
Precocious puberty
Precocious puberty, central, 1
Precocious puberty, central, 2
Precocious puberty in males
Preeclampsia
Preeclampsia/eclampsia 4
Preeclampsia/eclampsia 5
Preeclampsia in autoimmune dis...
Pre gestational diabetes
Pregnancy loss, recurrent, sus...
Preimplantation embryonic leth...
Prekallikrein deficiency
Premature aging syndrome, Pent...
Premature chromatid separation...
Premature chromatid separation...
Premature ovarian failure
Premature ovarian failure 10
Premature ovarian failure 13
Premature ovarian failure 2b
Premature ovarian failure 4
Premature ovarian failure 5
Premature ovarian failure 7
Premature ovarian failure 9
Premature ovarian failure & am...
Premature ovarian failure and ...
Premature ovarian insufficienc...
Premature ovarian insufficienc...
Premature pubarche
Prenatal growth restriction re...
Presenile dementia and parkins...
Presenile dementia with bone c...
Presynaptic congenital myasthe...
Preterm premature rupture of m...
Primary adrenal insufficiency
Primary adrenal insufficiency ...
Primary amenorrhea
Primary amenorrhea with Muller...
Primary autosomal recessive mi...
Primary autosomal recessive mi...
Primary autosomal recessive mi...
Primary autosomal recessive mi...
Primary autosomal recessive mi...
Primary autosomal recessive mi...
Primary autosomal recessive mi...
Primary autosomal recessive mi...
Primary autosomal recessive mi...
Primary biliary cirrhosis
Primary ciliary dyskinesia
Primary ciliary dyskinesia 23
Primary ciliary dyskinesia 24
Primary ciliary dyskinesia & m...
Primary ciliary dyskinesia wit...
Primary coenzyme Q10 deficienc...
Primary dilated cardiomyopathy
Primary dystonia adolescent-on...
Primary erythromelalgia
Primary failure of tooth erupt...
Primary familial brain calcifi...
Primary familial hypertrophic ...
Primary hyperoxaluria
Primary hyperoxaluria, type I
Primary hyperoxaluria, type II
Primary hyperoxaluria, type II...
Primary hypertrophic osteoarth...
Primary hypomagnesemia
Primary immunodeficiency
Primary immunodeficiency disea...
Primary immunodeficiency syndr...
Primary interstitial lung dise...
Primary lateral sclerosis
Primary lateral sclerosis adul...
Primary localized cutaneous am...
Primary microcephaly
Primary microcephaly & primord...
Primary Microcephaly, Recessiv...
Primary microcephaly severe gr...
Primary myelofibrosis with mil...
Primary open angle glaucoma
Primary open angle glaucoma ju...
Primary osteoporosis childhood...
Primary ovarian insufficiency
Primary pigmented nodular adre...
Primary pulmonary hypertension
Primary pulmonary hypertension...
Primary pulmonary hypertension...
Primary pulmonary hypertension...
Primary sclerosing cholangitis
Primordial dwarfism
Primrose syndrome
Prion disease
Profound global developmental ...
Progeroid syndrome
Progeroid syndrome atypical an...
Progeroid syndrome juvenile
Progressive ataxia and palatal...
Progressive ataxia with hearin...
Progressive atrial conduction ...
Progressive bilateral mesial t...
Progressive cerebellar ataxia
Progressive cerebello-cerebral...
Progressive cone degeneration
Progressive cone dystrophy (wi...
Progressive cortical cataract ...
Progressive encephalopathy
Progressive encephalopathy and...
Progressive encephalopathy ear...
Progressive encephalopathy wit...
Progressive external ophthalmo...
Progressive external ophthalmo...
Progressive external ophthalmo...
Progressive external ophthalmo...
Progressive external ophthalmo...
Progressive external ophthalmo...
Progressive external ophthalmo...
Progressive External Ophthalmo...
Progressive external ophthalmo...
Progressive external ophthalmo...
Progressive external ophthalmo...
PROGRESSIVE EXTERNAL OPHTHALMO...
Progressive familial heart blo...
Progressive familial heart blo...
Progressive familial intrahepa...
Progressive familial intrahepa...
Progressive familial intrahepa...
Progressive hearing loss
Progressive hyper- and hypopig...
Progressive hyperpigmentation
Progressive hyperpigmentation ...
Progressive intrahepatic chole...
Progressive microcephaly
Progressive microcephaly intel...
Progressive microcephaly & int...
Progressive microcephaly sever...
Progressive movement disorder ...
Progressive muscular atrophy
Progressive myoclonic ataxia
Progressive myoclonic ataxia w...
Progressive myoclonic epilepsy
Progressive myoclonus epilepsy...
Progressive myoclonus epilepsy...
Progressive myoclonus epilepsy...
Progressive myositis ossifican...
Progressive neurodegenerative ...
Progressive neurodegenerative ...
Progressive osseous heteroplas...
Progressive sclerosing poliody...
Progressive sensorineural hear...
Progressive sensorineural hear...
Progressive spastic paraparesi...
Progressive supranuclear ophth...
Progressive supranuclear palsy
Progressive supranuclear-palsy...
Prolactinoma
Prolidase deficiency
Proliferative vasculopathy and...
Proliferative vasculopathy & h...
Proline dehydrogenase deficien...
Proline-rich protein PRB3 defi...
Prolonged electroretinal respo...
Prolonged neonatal hepatitis
Prolonged QT interval
Proopiomelanocortin deficiency
Properdin deficiency
Properdin deficiency, type II
Properdin deficiency, type III
Properdin deficiency, X-linked
Propionic acidaemia
Propionic acidemia late onset
Propionyl-CoA carboxylase defi...
Proprotein convertase 1/3 defi...
Prosaposin deficiency
Prostaglandin synthase-1 defic...
Prostanoid biosynthesis defici...
Prostate cancer
Prostate cancer/brain cancer s...
Prostate cancer, somatic
Prostate cancer susceptibility
Prostate cancer susceptibility...
Prostrate cancer
Protan colour-vision defect
Protan defect
Protanomaly
Protanopia
Proteasome-associated auto-inf...
PROTEASOME-ASSOCIATED AUTOINFL...
Protein C deficiency
Protein C deficiency type I
Protein C deficiency type II
Protein C deficiency with recu...
Protein kinase C delta deficie...
Protein losing enteropathy
Protein-losing enteropathy
Protein-losing enteropathy ear...
Protein S deficiency
Protein S deficiency type I
Protein S deficiency type III
Proteinuria
Proteinuria and hematuria
Proteinuria, low molecular wei...
Proteinuria nephrotic-range
Protein Z deficiency
Proteus-like syndrome
Proteus syndrome
Prothrombin deficiency
Protoporphyria erythropoietic
Protoporphyria, erythropoietic...
Protoporphyria, erythropoietic...
Proud Levine Carpenter syndrom...
Proximal muscle weakness
Proximal muscle weakness and w...
Proximal muscle weakness facia...
Proximal muscle weakness & hyp...
Proximal muscle weakness & leu...
Proximal muscle weakness lordo...
Proximal myopathy adult - onse...
Proximal myopathy with focal d...
Proximal renal tubular acidosi...
Proximal spinal muscular atrop...
PRPH2-associated macular dystr...
Pruritus
Pseudoachondroplasia
Pseudoachondroplastic spondylo...
Pseudocysts periventricular
Pseudodeficient enzyme activit...
Pseudohermaphroditism
Pseudohermaphroditism, female,...
Pseudohermaphroditism male
Pseudohermaphroditism male inc...
Pseudohermaphroditism male wit...
Pseudo-Hurler polydystrophy
Pseudohyperkalaemia familial
Pseudohyperkalemia Cardiff
Pseudohyperkalemia, familial, ...
Pseudohypoaldosteronism 1
Pseudohypoaldosteronism 1 rena...
Pseudohypoaldosteronism 1 syst...
Pseudohypoaldosteronism 2
Pseudohypoaldosteronism - hype...
Pseudohypoaldosteronism type 1...
Pseudohypoaldosteronism type 1...
Pseudohypoaldosteronism type 2...
Pseudohypoaldosteronism type 2...
Pseudohypoaldosteronism type 2...
Pseudohypoaldosteronism type 2...
Pseudohypoaldosteronism type I...
Pseudohypoparathyroidism
Pseudohypoparathyroidism 1a
Pseudohypoparathyroidism 1a wi...
Pseudohypoparathyroidism 1a wi...
Pseudohypoparathyroidism 1b wi...
Pseudohypoparathyroidism 1c
Pseudohypoparathyroidism type ...
PSEUDOHYPOPARATHYROIDISM, TYPE...
Pseudoinflammatory fundus dyst...
Pseudoneonatal adrenoleukodyst...
Pseudopseudohypoparathyroidism
Pseudorheumatoid dysplasia and...
Pseudo-TORCH syndrome 1
Pseudovitamin D-deficiency ric...
Pseudo von Willebrand disease
Pseudo-von Willebrand disease
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum autos...
Pseudoxanthoma elasticum-like ...
Pseudoxanthoma elasticum-like ...
Pseudoxanthoma elasticum, modi...
Psoriasis
Psoriasis 15, pustular, suscep...
Psoriasis 2, pustular
Psoriasis generalised pustular
Psoriasis susceptibility 13
Psoriasis susceptibility 2
Psoriasis vulgaris
Psychomotor delay epilepsy lef...
Psychomotor regression hypoton...
Psychomotor retardation
Psychomotor retardation, epile...
Psychomotor retardation failur...
Psychomotor retardation Leigh ...
Psychomotor retardation myoclo...
PTEN hamartoma tumor syndrome
Pterygium syndrome
Pterygium syndrome Escobar var...
Ptosis
Pulmonary alveolar microlithia...
PULMONARY ALVEOLAR MICROLITHIA...
Pulmonary alveolar proteinosis
Pulmonary alveolar proteinosis...
Pulmonary arterial hypertensio...
Pulmonary arterial hypertensio...
Pulmonary arterial hypertensio...
Pulmonary arterial hypertensio...
Pulmonary arterial hypertensio...
Pulmonary arterial hypertensio...
Pulmonary arterial hypertensio...
Pulmonary arterial hypertensio...
Pulmonary arterial hypertensio...
Pulmonary arterial hypertensio...
Pulmonary arterio-venous malfo...
Pulmonary atresia
Pulmonary atresia with intact ...
Pulmonary atresia with ventric...
Pulmonary embolism
Pulmonary fibrosis
Pulmonary fibrosis adult-onset
Pulmonary fibrosis and emphyse...
Pulmonary fibrosis and/or bone...
Pulmonary fibrosis and/or bone...
Pulmonary fibrosis and/or bone...
Pulmonary fibrosis idiopathic
Pulmonary hypertension
Pulmonary hypertension chronic...
Pulmonary hypertension, neonat...
Pulmonary hypertension primary
Pulmonary hypertension, primar...
Pulmonary hypoplasia
Pulmonary nontuberculosis myco...
Pulmonary stenosis
Pulmonary Surfactant Metabolis...
Pulmonary veno-occlusive disea...
Pulmonary venoocclusive diseas...
Pulmonary venoocclusive diseas...
Pulmonic stenosis
Pumilio 1 associated developme...
Pumilio 1-related cerebellar a...
Punctate cataract juvenile pro...
PURA syndrome
Pure or complex autosomal rece...
Pure spastic paraplegia congen...
Purine-nucleoside phosphorylas...
Purpura fulminans
Pustular psoriasis
Pustular psoriasis generalised
Pustular psoriasis, generalize...
Pycnodysostosis
Pycnodysostosis atypical
PYCR1 deficiency
Pyknodysostosis
Pyloric stenosis, infantile hy...
Pyoderma gangrenosum acne & su...
Pyoderma gangrenosum acne & ul...
Pyogenic arthritis, pyoderma g...
Pyogenic skin infections colit...
Pyridoxal 5'-phosphate-depende...
Pyridoxine-dependent epilepsy
Pyrimidine 5' nucleotidase def...
Pyrin-associated autoinflammat...
Pyroderma gangrenosum and asep...
Pyropoikilocytosis
Pyrroline-5-carboxylate synthe...
Pyruvate carboxylase deficienc...
Pyruvate carboxylase deficienc...
Pyruvate carboxylase deficienc...
Pyruvate dehydrogenase complex...
Pyruvate dehydrogenase defect
Pyruvate dehydrogenase deficie...
Pyruvate dehydrogenase deficie...
Pyruvate dehydrogenase E1-alph...
Pyruvate dehydrogenase E1-beta...
Pyruvate dehydrogenase E2 defi...
Pyruvate dehydrogenase E3-bind...
Pyruvate dehydrogenase lipoic ...
Pyruvate dehydrogenase phospha...
Pyruvate kinase deficiency
Pyruvate kinase deficiency of ...
Quebec platelet disorder
Rabson-Mendenhall syndrome
Radiohumeral fusions with othe...
Radioulnar synostosis
RAG1 deficiency
RAG2 deficiency
RAG deficiency
Raine syndrome
Raine syndrome non-lethal
Rajab interstitial lung diseas...
Ramon syndrome
Rapp-Hodgkin ectodermal dyspla...
Rapp-Hodgkin syndrome
Rare genetic deafness
Ras-associated autoimmune leuk...
Rasopathy
RASopathy
RECLASSIFIED - VARIANT OF UNKN...
Rectal Adenocarcinoma
Recurrent abortion
Recurrent bronchitis
Recurrent fever
Recurrent fever gastrointestin...
Recurrent infection and mild n...
Recurrent infection and mild n...
Recurrent infection neutropeni...
Recurrent infections
Recurrent pregnancy loss
Recurrent subcortical infarcts
Recurrent viral infection and ...
Recurrent viral respiratory in...
Red cell adenosine deaminase o...
Red hair increased risk
Reduced activity
Reduced alpha-1-antitrypsin co...
Reduced antithrombin III activ...
Reduced blood pressure
Reduced catalytic activity
Reduced expression (weak D)
Reduced function & thiopurine ...
Reduced generation of multiple...
Reduced high density lipoprote...
Reduced kidney function hyperu...
Reduced lipase activity
Reduced oxygen affinity
Reduced plasma HDL cholesterol
Reduced protein C activity
Reduced protein S activity
Reduced prothrombin activity
Reduced total cholesterol
Reducing body myopathy
Refractory anaemia with excess...
Refractory anemia with ringed ...
Refractory epilepsy & developm...
Refractory epilepsy developmen...
Refractory lupus nephritis
Refractory seizures early-onse...
Refsum disease
Refsum disease, adult, 1
Refsum disease infantile
Regressed motor development an...
Regression of motor developmen...
Reifenstein syndrome
Reis-Bucklers corneal dystroph...
Relapsing remitting multiple s...
Renal adysplasia
Renal agenesis
Renal agenesis/Hypoplasia/Dysp...
Renal agenesis oligomeganephro...
Renal angiomyolipoma
Renal cancer
Renal carnitine transport defe...
Renal cell carcinoma
Renal cell carcinoma, papillar...
Renal cell carcinoma with para...
Renal coloboma syndrome
Renal-coloboma syndrome
Renal cyst
Renal cystic dysplasia syndrom...
Renal disease with hepatic and...
Renal dysplasia
Renal dysplasia and retinal ap...
Renal dysplasia, retinal pigme...
Renal fanconi syndrome and kid...
Renal glucosuria
Renal hamartomas nephroblastom...
Renal-hepatic-pancreatic dyspl...
Renal-hepatic-pancreatic dyspl...
Renal-hepatic-pancreatic dyspl...
Renal hypodysplasia
Renal hypodysplasia/aplasia 1
Renal hypomagnesaemia refracto...
Renal Hypomagnesemia, Dominant
Renal Hypomagnesemia, Recessiv...
Renal hypoplasia
Renal hypouricaemia
Renal hypouricaemia type 2
Renal hypouricemia 2
Renal insufficiency
Renal magnesium wasting
Renal malformation
Renal tubular acidosis
Renal tubular acidosis distal
Renal tubular acidosis, distal...
Renal tubular acidosis, distal...
Renal tubular acidosis, distal...
Renal tubular acidosis, proxim...
Renal tubular acidosis sensori...
Renal tubular acidosis with pr...
Renal tubular dysgenesis
Renal tubular dysgenesis trans...
Renpenning syndrome 1
Resistant partial seizures
Respiratory chain & 2-oxoacid ...
Respiratory chain deficiency
Respiratory chain deficiency c...
Respiratory distress
Respiratory distress neonatal
Respiratory distress syndrome
Respiratory failure
Respiratory failure in infancy
Respiratory failure neonatal
Respiratory insufficiency
Respiratory symptoms of cystic...
Resting heart rate
Restrictive cardiomyopathy
Restrictive dermopathy
Reticular dysgenesis
Reticulate acropigmentation of...
Retinal arteries, tortuosity o...
Retinal cone dystrophy 3B
Retinal degeneration
Retinal degeneration autosomal...
Retinal degeneration, autosoma...
Retinal degeneration in ciliop...
Retinal degeneration late-onse...
Retinal degeneration non-syndr...
Retinal degeneration pericentr...
Retinal degeneration profound ...
Retinal disease
Retinal dystrophy
Retinal dystrophy/Achromatopsi...
Retinal dystrophy autosomal do...
Retinal dystrophy autosomal re...
Retinal dystrophy childhood on...
Retinal dystrophy early-onset
Retinal dystrophy early-onset ...
Retinal dystrophy early-onset ...
RETINAL DYSTROPHY, EARLY-ONSET...
Retinal dystrophy early-onset ...
Retinal dystrophy failure to t...
Retinal dystrophy, iris colobo...
Retinal dystrophy polydactyly ...
Retinal dystrophy severe child...
Retinal dystrophy with early m...
Retinal dystrophy with inner r...
Retinal dystrophy with intrare...
RETINAL DYSTROPHY WITH OR WITH...
Retinal pigmentosa
Retiniitis pigmentosa
Retinitis pigmentosa
Retinitis Pigmentosa
Retinitis pigmentosa 10
Retinitis pigmentosa 11
Retinitis pigmentosa 12
Retinitis pigmentosa 13
Retinitis pigmentosa 14
Retinitis pigmentosa 15
Retinitis pigmentosa 17
Retinitis pigmentosa 18
Retinitis pigmentosa 2
Retinitis pigmentosa 20
Retinitis pigmentosa 26
Retinitis pigmentosa 27
Retinitis pigmentosa 28
Retinitis pigmentosa 30
Retinitis pigmentosa 33
Retinitis pigmentosa 36
Retinitis pigmentosa 38
Retinitis pigmentosa 4
Retinitis pigmentosa 40
Retinitis pigmentosa 41
Retinitis pigmentosa 42
Retinitis pigmentosa 43
Retinitis pigmentosa 45
Retinitis pigmentosa 46
Retinitis pigmentosa 49
Retinitis pigmentosa 4, autoso...
Retinitis pigmentosa 50
Retinitis pigmentosa 54
Retinitis pigmentosa 55
Retinitis pigmentosa 58
Retinitis pigmentosa 59
Retinitis pigmentosa 60
Retinitis pigmentosa 61
Retinitis pigmentosa 62
Retinitis pigmentosa 64
Retinitis pigmentosa 68
Retinitis pigmentosa 70
Retinitis pigmentosa 75
Retinitis pigmentosa 76
Retinitis pigmentosa 79
Retinitis pigmentosa 80
Retinitis pigmentosa 81
Retinitis pigmentosa 82 with o...
Retinitis pigmentosa 84
Retinitis pigmentosa 9
Retinitis pigmentosa and heari...
Retinitis pigmentosa autosomal...
Retinitis pigmentosa autosomal...
Retinitis pigmentosa / choroid...
Retinitis pigmentosa / cone-ro...
Retinitis pigmentosa-deafness ...
Retinitis Pigmentosa, Dominant
Retinitis pigmentosa early-ons...
Retinitis pigmentosa early-ons...
Retinitis pigmentosa early-ons...
Retinitis pigmentosa hearing l...
Retinitis pigmentosa juvenile-...
Retinitis pigmentosa / leber c...
Retinitis pigmentosa mild & de...
Retinitis pigmentosa nanophtha...
Retinitis pigmentosa nonsyndro...
Retinitis pigmentosa pericentr...
Retinitis pigmentosa & polydac...
Retinitis Pigmentosa, Recessiv...
Retinitis pigmentosa & retinal...
Retinitis pigmentosa & rod con...
Retinitis pigmentosa simplex
Retinitis pigmentosasimplex
Retinitis pigmentosa syndromic
Retinitis pigmentosa with macu...
Retinitis pigmentosa X-linked
Retinitis pigmentosa, X-linked...
Retinitis punctata albescens
Retinoblastoma
Retinol deficiency
Retinopathy
Retinopathy of prematurity
Retinopathy of prematurity inc...
Retinopathy & optic atrophy
Retinoschisis X linked
Retinoschisis X linked juvenil...
Retrognathia
Rett-like syndrome
Rett syndrome
Rett syndrome atypical
Rett syndrome, congenital vari...
Rett syndrome features
Rett syndrome Hanefeld variant
Rett syndrome variant with inf...
Rett syndrome with hypoplastic...
Revesz syndrome
Reynolds syndrome
Rhabdoid tumor
Rhabdoid tumor predisposition ...
Rhabdoid tumor predisposition ...
Rhabdoid tumour
Rhabdoid tumour predisposition...
Rhabdomyolysis
Rhabdomyolysis episodes
Rhabdomyolysis exercise-induce...
Rhabdomyolysis fever-induced
Rhabdomyolysis hypoglycaemia h...
Rhabdomyolysis & muscular dyst...
Rhabdomyolysis-myalgia syndrom...
Rhabdomyosarcoma
Rhabdomyosarcoma embryonal
Rhabdomyosarcoma, somatic
RhD category D-VII
Rh-deficiency syndrome
RhD weak D
Rhd, weak d, type I
Rhegmatogenous retinal detachm...
Rhegmatogenous retinal detachm...
Rheumatoid arthritis
Rheumatoid arthritis and recur...
Rheumatoid arthritis increased...
Rhizomelic chondrodysplasia pu...
Rhizomelic chondrodysplasia pu...
Rhizomelic chondrodysplasia pu...
Rh-mod phenotype
Rh-mod syndrome
Rh-null, regulator type
Rh-null syndrome
Riboflavin responsive complex ...
Riboflavin responsive mitochon...
Ribose-5-phosphate isomerase d...
Richieri Costa Pereira syndrom...
Richieri-Costa-Pereira syndrom...
Rickets hypophosphataemic
Rickets hypophosphataemic auto...
Rickets vitamin D dependent ty...
Rickets vitamin D dependent ty...
Rickets vitamin D dependent ty...
Rickets vitamin D dependent ty...
Rickets vitamin D resistant
Rickets vitamin D resistant wi...
Rickets vitamin D resistant wi...
Rieger anomaly
Rieger anomaly with glaucoma
Rieger syndrome
Right ventricular cardiomyopat...
Rigidity and multifocal seizur...
Ring dermoid of cornea
Ring dermoid of the cornea
Rippling muscle disease
Rippling muscle disease 2
Rippling muscle disease & toe ...
Ritscher-schinzel syndrome 2
Roberts-SC phocomelia syndrome
Roberts syndrome
Robinow syndrome
Robinow syndrome autosomal dom...
Robinow syndrome, autosomal do...
Robinow syndrome, autosomal do...
Robinow syndrome, autosomal do...
Robinow syndrome autosomal rec...
Robinow syndrome, autosomal re...
Robin sequence
Rod and cone photoreceptor deg...
Rod-cone dystrophy
Rod-cone dystrophy early-onset
Rokitansky Kuster Hauser syndr...
Rokitansky-Kuster-Hauser syndr...
Rolandic epilepsy
Rolandic epilepsy with mental ...
Romano-Ward syndrome
Rosenberg-Chutorian syndrome
Rotor syndrome
Roussy-Levy syndrome
Roussy-Lévy syndrome
RRM2B-related mitochondrial di...
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome 1
Rubinstein-Taybi syndrome 2
Rubinstein-Taybi syndrome type...
Ruijs-Aalfs syndrome
Russell-Silver syndrome
RYR1-Related Disorders
Sacral agenesis ossification o...
Sacral agenesis with vertebral...
S-adenosylhomocysteine hydrola...
Saethre-Chotzen syndrome
Salla disease
Salt and pepper developmental ...
Salt and Pepper syndrome
Salt-losing tubulopathy
Samaritan myopathy
Sandhoff disease
Sandhoff disease, chronic
Sandhoff disease infantile
Sandhoff disease juvenile
Sandhoff disease late-onset
SANDO
SANDO with dopamine-agonist re...
Sanfilippo syndrome
Sanfilippo syndrome A
Sanfilippo syndrome B
Sanfilippo syndrome B slow pro...
Santos syndrome
Saposin A deficiency
Saposin C deficiency
Sarcoidosis early onset
Sarcoidosis susceptibility to
Sarcoma
Sarcoma adult-onset
Sarcosinemia
Sarcotubular myopathy
SATB2-associated syndrome
Scalp ear nipple syndrome
Scalp-ear-nipple syndrome
Scalp hemangioma
Scapular winging
Scapulohumeral muscular dystro...
Scapuloperoneal muscular dystr...
Scapuloperoneal myopathy
Scapuloperoneal myopathy, X-li...
Scapuloperoneal spinal muscula...
Schaaf-yang syndrome
Scheie syndrome
Schimke immuno-osseous dysplas...
Schimke immunoosseous dysplasi...
Schindler disease, type 1
Schinzel-Giedion syndrome
Schinzel phocomelia syndrome
Schizencephaly
SCHIZENCEPHALY
Schizencephaly bilateral
Schizencephaly & cortical malf...
Schizencephaly renovascular hy...
Schizencephaly unilateral
Schizophrenia
Schizophrenia and autism spect...
Schizophrenia/autism spectrum ...
Schizophrenia childhood-onset
Schizophrenia / depression
Schizophrenia susceptibility t...
Schneckenbecken dysplasia
Schnitzler syndrome
Schnyder crystalline corneal d...
Schöpf-Schulz-Passarge syndrom...
Schuurs-hoeijmakers syndrome
Schuurs-Hoeijmakers syndrome
Schwachman-Diamond syndrome
Schwannomatosis
Schwannomatosis 1
Schwannomatosis 2
Schwannomatosis familial
Scizophrenia susceptibility to
Sclerocornea-microphthalmia-ap...
Sclerocornea non-syndromic bil...
Sclerocornea total
Sclerosing Bone Dysplasias
Sclerosing cholangitis neonata...
Sclerosteosis
Sclerosteosis 2
Scoliosis
Scoliosis, isolated, susceptib...
Scoliosis & muscle weakness
Scoliosis severe
Scott syndrome
Scrotal hypoplasia
Sebastian syndrome
Seckel syndrome
Seckel syndrome 1
Seckel syndrome 2
Seckel syndrome 4
Seckel syndrome 9
Secondary amenorrhea
Secondary hypothyroidism
Secondary lymphoedema
Segawa syndrome
Segawa syndrome, autosomal rec...
Seip syndrome
Seizures
Seizures and cerebellar ataxia
Seizures, benign familial infa...
Seizures, benign familial infa...
Seizures benign familial neona...
Seizures benign infantile
Seizures benign neonatal
Seizures benign neonatal-infan...
Seizures & developmental delay
Seizures developmental delay &...
Seizures & developmental regre...
Seizures early-onset
Seizures folinic-acid responsi...
Seizures generalized
Seizures generalized tonic-clo...
Seizures global developmental ...
Seizures increased risk
Seizures intellectual disabili...
Seizures intellectual disabili...
Seizures microcephaly & short ...
Seizures motor delay & delayed...
Seizures new onset & status ep...
Seizures, scoliosis, and macro...
Seizures with delayed speech
Selective immunoglobulin M def...
Selective tooth agenesis
Selective tooth agenesis 1
Selective tooth agenesis nonsy...
Selective tooth agenesis syndr...
Selenoprotein-related disease
Self-mutilation
Semantic dementia
Semilobar holoprosencephaly
Seminoma
Sengers syndrome
Senior-Loken syndrome
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Senior-Loken syndrome 9
Sensorimotor neuropathy
Sensorimotor peripheral neurop...
Sensorineural deafness nonsynd...
Sensorineural deafness progres...
Sensorineural deafness with pa...
Sensorineural hearing impairme...
Sensorineural hearing loss
Sensorineural hearing loss dev...
Sensorineural hearing loss & l...
Sensorineural hearing loss non...
Sensorineural hearing loss non...
Sensorineural hearing loss wit...
Sensorineural hearing loss wit...
Sensory and autonomic neuropat...
Sensory and autonomic neuropat...
Sensory and autonomic neuropat...
Sensory and autonomic neuropat...
Sensory and autonomic neuropat...
Sensory and autonomic neuropat...
Sensory and autonomic neuropat...
Sensory ataxia autosomal domin...
Sensory ataxia neuropathy opht...
Sensory ataxic neuropathy, dys...
Sensory-ataxic neuropathy opht...
Sensory axonal neuropathy
Sensory-motor polyneuropathy
Sensory neurodegeneration with...
Sensory neuropathy
Sensory neuropathy 1
Sensory neuropathy with bone d...
Sensory neuropathy with dement...
Sensory Neuropathy with Spasti...
Sepiapterin reductase deficien...
Septate uterus
Septic-optic dysplasia
Septo-optic dysplasia
Septo-optic dysplasia / Moebiu...
Septo-optic dysplasia sequence
Serkal syndrome
SERKAL syndrome
SeSAME syndrome
Setleis syndrome
Severe asphyxiating thoracic d...
Severe autosomal recessive mus...
Severe bleeding
Severe chylothorax poor respon...
Severe Combined Immune Deficie...
Severe combined immunodeficien...
Severe combined immunodeficien...
Severe combined immunodeficien...
Severe combined immunodeficien...
Severe combined immunodeficien...
Severe combined immunodeficien...
Severe combined immunodeficien...
Severe combined immunodeficien...
Severe combined immunodeficien...
Severe congenital myotubular m...
Severe congenital neutropenia
Severe congenital neutropenia ...
Severe congenital neutropenia ...
Severe congenital neutropenia ...
Severe congenital neutropenia ...
Severe congenital ptosis ophth...
Severe cystic degeneration of ...
Severe delays seizures microce...
Severe dermatitis multiple all...
Severe dysmorphic syndrome wit...
Severe dysplasia
Severe early infantile encepha...
Severe immunodeficiency, autos...
Severe insulin resistance and ...
Severe intellectual deficiency
Severe intellectual disability...
Severe intellectual disability...
Severe iron overload
Severe motor delay and leukoen...
Severe muscular hypotonia prog...
Severe myoclonic epilepsy in i...
Severe myoclonic epilepsy of i...
Severe Myopia
Severe neonatal anemia in gluc...
Severe neonatal-onset encephal...
Severe osteopenia & fractures
Severe postnatal growth retard...
Severe X-linked myotubular myo...
Sex hormone binding globulin d...
Shah-Waardenburg syndrome
Shashi-Pena syndrome
Sheldon-Hall syndrome & verteb...
Shone complex
Short-chain acyl-CoA-dehydroge...
Short-chain enoyl-CoA hydratas...
Short-coupled variant of torsa...
Short-limbed dwarfism
Short lingual frenulum
Short normal stature
Short QT3 syndrome & autism-ep...
short QT syndrome
Short QT syndrome
Short QT syndrome 1
Short QT syndrome 2
Short QT syndrome 3
Short-rib polydactyly and Jeun...
Short rib polydactyly syndrome
Short rib-polydactyly syndrome
Short-rib polydactyly syndrome
Short Rib Polydactyly Syndrome
Short rib polydactyly syndrome...
Short rib-polydactyly syndrome...
Short rib-polydactyly syndrome...
Short rib-polydactyly syndrome...
Short rib-polydactyly syndrome...
Short rib-polydactyly syndrome...
Short rib-polydactyly syndrome...
Short-rib polydactyly syndrome...
Short-rib polydactyly syndrome...
Short-rib polydactyly syndrome...
Short ribs
Short-rib thoracic dysplasia
Short-rib thoracic dysplasia 1...
Short-rib thoracic dysplasia 1...
Short-rib thoracic dysplasia 1...
Short-rib thoracic dysplasia 1...
Short-rib thoracic dysplasia 3...
Short-rib thoracic dysplasia 8...
Short-rib thoracic dysplasia t...
Short-rib thoracic dysplasia w...
Short stature
Short stature autosomal domina...
Short stature brachydactyly in...
Short stature, brachydactyly, ...
Short stature cardiac & skelet...
Short stature delayed bone age...
Short stature, developmental d...
Short stature developmental de...
Short stature gonadal failure ...
SHORT STATURE, HEARING LOSS, R...
Short stature hypermobility hy...
Short stature, idiopathic, aut...
Short stature, idiopathic, X-l...
Short stature & intellectual d...
Short stature, microcephaly, a...
Short stature microcephaly & d...
Short stature microcephaly & h...
Short stature motor delay atax...
Short stature, onychodysplasia...
Short stature onychodysplasia ...
Short stature, rhizomelic, wit...
Short stature severe
Short stature with microcephal...
Short stature with nonspecific...
Short stature with skeletal ab...
Short staure & intrauterine gr...
SHORT syndrome
Short telomere syndrome
Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome w...
Shprintzen syndrome
Shwachman-Diamond-like syndrom...
Shwachman-Diamond syndrome
SHWACHMAN-DIAMOND SYNDROME 2
Shwachman syndrome
Shy-Drager syndrome
Sialic acid biosynthesis
Sialic acid storage disease
Sialic acid storage disease in...
Sialic acid storage disease, s...
Sialic aciduria skeletal myopa...
Sialidosis
Sialidosis 1
Sialidosis 2
Sialidosis type I
Sialidosis, type II
Sialuria
Sickle cell anaemia
Sickling variant
Sick sinus syndrome
Sick sinus syndrome 2, autosom...
Siderius X-linked mental retar...
Sideroblastic anaemia
Sideroblastic anaemia and atax...
Sideroblastic anaemia and myop...
Sideroblastic anaemia B & T ce...
Sideroblastic anaemia diarrhoe...
Sideroblastic anaemia early on...
Sideroblastic anaemia with imm...
Sideroblastic anemia 3, pyrido...
Sideroblastic Anemia and Ataxi...
Sideroblastic anemia with B-ce...
Sifrim-Hitz-Weiss syndrome
Silver-like syndrome
Silver-Russell syndrome
Simpson-Golabi-Behmel syndrome
Single median maxillary inciso...
Singleton-Merten syndrome
Singleton-Merten syndrome 2
Sinus bradycardia
Sinus bradycardia & cognitive ...
Sinus bradycardia & myocardial...
Sinus node disease
Sinus node dysfunction and atr...
Sitosterolaemia
Sitosterolemia
Situs abnormality
Situs ambiguus
Situs inversus
Situs inversus and congenital ...
Situs inversus and male infert...
Situs inversus and motile cili...
Situs inversus totalis
Sjögren-Larsson syndrome
Sjögren-Larsson Syndrome
Skeletal and cardiac muscular ...
Skeletal defects and genital h...
Skeletal defects, genital hypo...
Skeletal dysplasia
Skeletal dysplasia and joint l...
Skeletal dysplasia immune defi...
Skeletal dysplasia with 46XY g...
Skin and hair hypopigmentation
Skin anomalies delayed wound h...
Skin creases, congenital symme...
Skin fragility and woolly hair
Skin fragility woolly hair syn...
Skin/hair/eye pigmentation 2, ...
Skin/hair/eye pigmentation, va...
Skin sloughing
SLC10A1 deficiency
SLC6A8 deficiency
Sleep-wake schedule disorder, ...
Slow channel myasthenic syndro...
Slowed nerve conduction veloci...
Slowed nerve conduction veloci...
Slowly progressive cerebellar ...
Small cell carcinoma of the ov...
Small cell lung cancer
Small fiber neuropathy
Small fibre neuropathy
Small for gestational age
Small intestine carcinoid
Small patella syndrome
Small vessel disease
Smith-Kingsmore syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Smith-Magenis Syndrome-like
Smith-Magenis syndrome-like di...
Smith-McCort dysplasia
Smith-McCort dysplasia 1
Smith-McCort dysplasia 2
Sneddon's syndrome
SNIJDERS BLOK-FISHER SYNDROME
Snowflake vitreoretinal degene...
Snyder Robinson syndrome
Snyder-Robinson syndrome
Sodium diarrhoea
SOFT syndrome
Solitary median maxillary cent...
Solitary median maxillary cent...
Somatostatin analog resistance
Somatotroph adenoma
Somatotropinoma
Sorsby fundus dystrophy
Sortilin deficiency
Sotos syndrome 3
Spasms infantile and bitempora...
Spastic ataxia
Spastic ataxia 5, autosomal re...
SPASTIC ATAXIA 8, AUTOSOMAL RE...
Spastic ataxia autosomal reces...
Spastic ataxia (cellebellar an...
Spastic ataxia Charlevoix-Sagu...
Spastic ataxia-neuropathy synd...
Spastic ataxia progressive and...
Spastic ataxic syndrome with p...
Spastic-dystonic movement diso...
Spasticity
Spasticity and sensorineural h...
Spastic paraparesis
Spastic paraparesis complex
Spastic paraparesis complicate...
Spastic paraparesis & deafness
Spastic paraparesis & intestin...
Spastic paraparesis segmental ...
Spastic paraparesis with brain...
Spastic paraparesis with thin ...
Spastic paraplegia
Spastic paraplegia 1
Spastic paraplegia 10
Spastic paraplegia 12
Spastic paraplegia 13
Spastic paraplegia 18
Spastic paraplegia 26
Spastic paraplegia 28, autosom...
Spastic paraplegia 3
Spastic paraplegia 30
Spastic paraplegia 30, autosom...
Spastic paraplegia 30 & spinoc...
Spastic paraplegia 31
Spastic paraplegia 31, autosom...
Spastic paraplegia 35
Spastic paraplegia 3A neonatal...
Spastic paraplegia 4
Spastic paraplegia 42, autosom...
Spastic paraplegia 43
Spastic paraplegia 43, autosom...
Spastic paraplegia 44, autosom...
Spastic paraplegia 45
Spastic paraplegia 45, autosom...
Spastic paraplegia 46
Spastic paraplegia 46, autosom...
Spastic paraplegia 47, autosom...
Spastic paraplegia 48
Spastic paraplegia 48, autosom...
Spastic paraplegia 4, autosoma...
Spastic paraplegia 5
Spastic paraplegia 50, autosom...
Spastic paraplegia 51, autosom...
Spastic paraplegia 53, autosom...
Spastic paraplegia 54, autosom...
Spastic paraplegia 56, autosom...
Spastic paraplegia 57, autosom...
Spastic paraplegia 58
Spastic paraplegia 59
Spastic paraplegia 5a
Spastic paraplegia 5A
Spastic paraplegia 5 with sens...
Spastic paraplegia 6
Spastic paraplegia 63
Spastic paraplegia 63, autosom...
Spastic paraplegia 64
Spastic paraplegia 64, autosom...
Spastic paraplegia 7
Spastic paraplegia 70
Spastic paraplegia 71
Spastic paraplegia 73, autosom...
Spastic paraplegia 75, autosom...
Spastic paraplegia 76, autosom...
Spastic paraplegia 77, autosom...
Spastic paraplegia 78, autosom...
Spastic paraplegia 79, autosom...
Spastic paraplegia 8
Spastic paraplegia 9
Spastic paraplegia 9b, autosom...
Spastic paraplegia adult-onset...
Spastic paraplegia and cerebel...
Spastic paraplegia and parkins...
Spastic paraplegia and sensory...
Spastic paraplegia & ataxia
Spastic paraplegia autosomal d...
Spastic paraplegia, autosomal ...
Spastic paraplegia autosomal r...
Spastic paraplegia/axonal neur...
Spastic paraplegia complex
Spastic paraplegia complicated
Spastic paraplegia early-onset...
Spastic paraplegia failure to ...
Spastic paraplegia, intellectu...
Spastic paraplegia non-progres...
Spastic paraplegia optic atrop...
Spastic paraplegia & periphera...
Spastic Paraplegia, Recessive
Spastic paraplegia type 28
Spastic paraplegia with activi...
Spastic paraplegia with cerebe...
Spastic paraplegia with progre...
Spastic paraplegia with thin c...
Spastic paresis progressive
Spastic tetraplegia, thin corp...
Specific granule deficiency
Specific learning disability
Speech defect abnormal gait hy...
Speech delay and spastic parap...
Speech delay intellectual disa...
Speech & language disorder
Speech-language disorder 1
Spermatogenic failure
Spermatogenic Failure
Spermatogenic failure 11
Spermatogenic failure 16
Spermatogenic failure 17
SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 21
SPERMATOGENIC FAILURE 22
SPERMATOGENIC FAILURE 23
SPERMATOGENIC FAILURE 27
Spermatogenic failure 3
SPERMATOGENIC FAILURE 37
Spermatogenic failure 8
Spermatogenic failure, X-linke...
Spherocytosis
Spherocytosis, Dominant
Spherocytosis, Recessive
Spherocytosis type 2
Spherocytosis type 3
Spherocytosis type 4
Spherocytosis type 5
Spheroid body myopathy
Spherophakia high myopia shall...
Sphingolipid activator protein...
Sphingomyelin/cholesterol lipi...
Spiegler-Brooke syndrome
Spina bifida
Spinal extradural arachnoid cy...
Spinal motor neuropathy
Spinal muscular atrophy
Spinal muscular atrophy and mi...
Spinal muscular atrophy associ...
Spinal muscular atrophy autoso...
Spinal muscular atrophy & cere...
Spinal muscular atrophy distal
Spinal muscular atrophy, dista...
Spinal muscular atrophy, dista...
Spinal muscular atrophy distal...
Spinal muscular atrophy distal...
Spinal muscular atrophy, jokel...
Spinal muscular atrophy like d...
Spinal muscular atrophy lower ...
Spinal muscular atrophy, lower...
Spinal muscular atrophy lower ...
Spinal muscular atrophy, lower...
SPINAL MUSCULAR ATROPHY, LOWER...
Spinal muscular atrophy modifi...
Spinal muscular atrophy, type ...
Spinal muscular atrophy with r...
Spinal muscular atrophy with u...
Spinal muscular atrophy X-link...
Spinal muscular atrophy, X-lin...
Spinal muscular atrophy X-link...
Spinal muscular dystrophy with...
Spinocerebellar ataxia
Spinocerebellar ataxia 1
Spinocerebellar ataxia 11
Spinocerebellar ataxia 12
Spinocerebellar ataxia 13
Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 late...
Spinocerebellar ataxia 15
Spinocerebellar ataxia 15/29
Spinocerebellar ataxia 19
Spinocerebellar ataxia 21
Spinocerebellar ataxia 22
Spinocerebellar ataxia 23
Spinocerebellar ataxia 26
Spinocerebellar ataxia 27
Spinocerebellar ataxia 28
Spinocerebellar ataxia 29
Spinocerebellar ataxia 35
Spinocerebellar ataxia 41
Spinocerebellar ataxia 43
SPINOCEREBELLAR ATAXIA 44
SPINOCEREBELLAR ATAXIA 47
Spinocerebellar ataxia 5
Spinocerebellar ataxia 5 infan...
Spinocerebellar ataxia 7
Spinocerebellar ataxia adult-o...
Spinocerebellar ataxia, autoso...
Spinocerebellar ataxia, autoso...
Spinocerebellar ataxia, autoso...
Spinocerebellar ataxia, autoso...
Spinocerebellar ataxia, autoso...
Spinocerebellar ataxia, autoso...
Spinocerebellar ataxia, autoso...
Spinocerebellar ataxia, autoso...
Spinocerebellar ataxia, autoso...
Spinocerebellar ataxia, autoso...
Spinocerebellar ataxia, autoso...
SPINOCEREBELLAR ATAXIA, AUTOSO...
SPINOCEREBELLAR ATAXIA, AUTOSO...
Spinocerebellar ataxia autosom...
Spinocerebellar ataxia & axona...
Spinocerebellar ataxia childho...
Spinocerebellar ataxia congeni...
Spinocerebellar Ataxia, Domina...
Spinocerebellar ataxia & eryth...
Spinocerebellar ataxia hearing...
Spinocerebellar ataxia infanti...
Spinocerebellar ataxia infanti...
Spinocerebellar ataxia with ax...
Spinocerebellar ataxia with bl...
Spinocerebellar ataxia with ne...
Spinocerebellar ataxia with ps...
Spinocerebellar ataxia, X-link...
Spinocerebellar ataxia, X-link...
Spinocerebral dysfunction
Splenomegaly
Split foot malformation
Split hand/foot malformation
Split-hand/foot malformation
Split hand/foot malformation 1
Split-hand/foot malformation 1
Split-hand/foot malformation 4
Split-hand/foot malformation 6
Sponastrime dysplasia
SPONASTRIME dysplasia
Spondylarthopathy
Spondylarthopathy with brachyd...
Spondylocarpotarsal synostosis...
Spondylocostal dysostosis
Spondylocostal dysostosis 1, a...
Spondylocostal dysostosis 2
Spondylocostal dysostosis 3
Spondylocostal dysostosis 4, a...
Spondylocostal dysostosis 5
Spondylodysplastic dysplasia
Spondylodysplastic dysplasia M...
Spondyloenchondrodysplasia
Spondyloenchondrodysplasia wit...
Spondylo-epi-metaphyseal dyspl...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepimetaphyseal dysplas...
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia a...
Spondyloepiphyseal dysplasia /...
SPONDYLOEPIPHYSEAL DYSPLASIA, ...
Spondyloepiphyseal dysplasia M...
Spondyloepiphyseal dysplasia O...
Spondyloepiphyseal dysplasia O...
Spondyloepiphyseal dysplasia, ...
Spondyloepiphyseal dysplasia w...
Spondylo-megaepiphyseal-metaph...
Spondylo-meta-epiphyseal dyspl...
Spondylometaepiphyseal dysplas...
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia ...
Spondylometaphyseal dysplasia ...
Spondylometaphyseal dysplasia ...
Spondylometaphyseal dysplasia ...
Spondylometaphyseal dysplasia ...
Spondylometaphyseal dysplasia,...
Spondylometaphyseal dysplasia ...
Spondylometaphyseal dysplasia,...
Spondylometaphyseal dysplasia ...
Spondylometaphyseal dysplasia ...
Spondylometaphyseal dysplasia ...
Spondylo-ocular syndrome
Spondyloocular syndrome, autos...
Spondyloperipheral dysplasia
Spongiform encephalopathy fami...
Spongy degeneration of central...
Spontaneous cervical artery di...
Spontaneous pneumothorax
Squamous cell carcinoma
SQUAMOUS CELL CARCINOMA, BURN ...
Squamous cell carcinoma of hea...
Squamous cell carcinoma of the...
Squamous cell carcinoma of the...
Squamous cell lung carcinoma
SSADH deficiency & incomplete ...
Stapes ankylosis with broad th...
Stargardt disease
Stargardt disease 1
Stargardt disease 2/3
Stargardt Disease 3
Stargardt disease 4-like macul...
Stargardt disease and macular ...
Stargardt Disease, Dominant
Stargardt disease late-onset
Stargardt macular dystrophy
STAT1 deficiency
STAT2 deficiency
STAT3 deficiency
STAT3 gain of function
Static encephalopathy of child...
Stationary night blindness
Stationary night blindness aut...
Stationary night blindness com...
Stationary night blindness Ogu...
Steatocystoma multiplex
Steinert myotonic dystrophy sy...
Stereotypy
Sterile brain inflammation
Steroid-11 beta-hydroxylase de...
Steroid-11 beta-hydroxylase de...
Steroid-11 beta-hydroxylase de...
Steroid-17 alpha-hydroxylase d...
Steroid induced posterior subc...
Steroid-resistant nephrotic sy...
Steroid-resistant nephrotic sy...
Stickler-like syndrome
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, type 2
Stickler syndrome, type I, non...
Stickler syndrome without eye ...
Stimulator of interferon genes...
Sting-associated vasculopathy,...
Stocco dos Santos syndrome
Stomatin-deficient cryohydrocy...
Stomatocytosis
Stomatocytosis I
Stomatocytosis overhydrated
Stormorken disease
Stormorken syndrome
Strabismus
Striatal Degeneration
Striatal necrosis, bilateral, ...
Striate palmoplantar keratoder...
Striatonigral degeneration, ch...
Striatonigral degeneration inf...
Stridor and cardiomyopathy
Stroke
Stroke axonal neuropathy & hae...
Stroke childhood-onset
Stroke early-onset
Stroke early-onset & vasculopa...
Stromal interaction molecule 1...
Structural heart defects and r...
Sturge-Weber syndrome
Stuttering
Stuttering, familial persisten...
Stuve-Wiedemann syndrome
STXBP1 encephalopathy
Subacute neuronopathic Gaucher...
Subclinical leukodystrophy & m...
Subcortical band heterotopia
Subcortical dementia and parki...
Subcortical laminar heterotopi...
Subcortical myoclonus & seizur...
Subcutaneous panniculitis-like...
Succinate-CoA ligase deficienc...
Succinate-semialdehyde dehydro...
Succinic semialdehyde dehydrog...
Succinyl-CoA:3-ketoacid CoA tr...
Succinyl-CoA acetoacetate tran...
Succinyl-coenzyme A synthetase...
Sucrase isomaltase deficiency
Sucrase-isomaltase deficiency
Sudden arrhythmic death syndro...
Sudden cardiac death
Sudden cardiac death in acute ...
Sudden cardiac failure, alcoho...
Sudden cardiac failure, infant...
Sudden death
Sudden infant death syndrome
SUDDEN INFANT DEATH SYNDROME
Sudden unexpected death in epi...
Sudden unexpected death in inf...
Sudden unexpected death in inf...
Sudden unexpected death with n...
Sudden unexplained death
Sudden unexplained death in in...
Sudden unexplained death syndr...
Sudden unexplained nocturnal d...
Sulfite oxidase deficiency
Sulphite oxidase deficiency
Superoxide dismutase, elevated...
Supranuclear palsy progressive
Supraventricular tachycardias ...
SURF1 deficiency
Surfactant metabolism dysfunct...
Surfactant metabolism dysfunct...
Surfactant metabolism dysfunct...
Surfactant metabolism dysfunct...
Surfactant metabolism dysfunct...
Surfactant protein B deficienc...
Surfactant protein B deficienc...
Surfactant protein C deficienc...
Susceptibility to infections
Susceptibility to Nonalcoholic...
Suxamethonium sensitivity
Sweeney-Cox syndrome
SWEENEY-COX SYNDROME
Symmetrical acral keratoderma
Symmetrical dyschromatosis of ...
Symmetric circumferential skin...
Symphalangism
Symphalangism and tarsal coali...
Symphalangism-brachydactyly sy...
Symphalangism proximal
Symphalangism, proximal, 1A
Symphalangism, proximal, 1B
Symphalangism proximal & condu...
Syndactyly
Syndactyly autosomal dominant
Syndactyly Cenani Lenz type
Syndactyly isolated with fusio...
Syndactyly/oligodactyly and ki...
Syndactyly type 1c
Syndactyly type 3
Syndactyly type 9
Syndactyly, type V
Syndactyly V
Syndromic deafness
Syndromic deafness microtia & ...
Syndromic intellectual disabil...
Syndromic mental retardation, ...
Syndromic X-linked mental reta...
Synergistic convergance with s...
Synovitis granulomatous with u...
Synpolydactyly
Synpolydactyly 1
Synpolydactyly with metacarpal...
Systemic capillary leak syndro...
Systemic lupus erythematosus
Systemic lupus erythematosus 9
Systemic lupus erythematosus e...
Systemic lupus erythmatosus, a...
Systemic sclerosis
Systemic sclerosis with autoim...
Tachycardia-bradycardia syndro...
TAFRO syndrome
Takenouchi-Kosaki syndrome
Talipes equinovarus
Talipes equinovarus atrial sep...
Tall stature
Tall stature and arachnodactyl...
Tall stature archnodactyly hyp...
Tall stature lateral tibial de...
Tall stature macrocephaly inte...
Tall stature scoliosis & macro...
Tangier disease
TANGO2-related disorder
Tarsal carpal coalition syndro...
Tarsal/carpal coalition syndro...
Tatton-Brown-rahman syndrome
Tatton-Brown-Rahman syndrome
Tay-Sachs disease
Tay-sachs disease, juvenile
Tay-Sachs disease late onset
Tay-Sachs disease, variant AB
T-B+NK-SCID
T-cell acute lymphoblastic leu...
T cell deficiency CD4 lymphopa...
T-cell immunodeficiency
T-cell immunodeficiency, conge...
T-cell immunodeficiency, recur...
T-cell immunodeficiency with e...
T-cell prolymphocytic leukemia
T cell senescence & immunodefi...
Teebi hypertelorism syndrome
Telecanthus
Telomere phenotypes
Temple-Baraister syndrome
Temple-Baraitser syndrome
Temporal lobe epilepsy
Temporomandibular disorder
Temtamy preaxial brachydactyly...
Temtamy syndrome
Tenorio syndrome
Teratozoospermia
Testicular anomalies with or w...
Testicular dysgenesis
Testicular dysgenesis syndrome
Testicular germ cell tumour
Testicular torsion neonatal
Testosterone 17-beta-dehydroge...
Tetraamelia, autosomal recessi...
Tetrahydrobiopterin deficiency
Tetralogy of Fallot
Tetralogy of Fallot with atria...
Tetralogy of Fallot with other...
Tetralogy of Fallot with paten...
Teunissen-Cremers syndrome
Thalassaemia
Thanatophoric dwarfism
Thanatophoric dysplasia
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thiamine Metabolism Dysfunctio...
Thiamine metabolism dysfunctio...
Thiamine metabolism dysfunctio...
Thiamine pyrophosphokinase def...
Thiamine-responsive megaloblas...
Thiel-Behnke corneal dystrophy
Thin basement membrane disease
Thin basement membrane nephrop...
Thin glomerular basement membr...
Thin upper lip vermilion
Thiopurine-induced toxicity
Thiopurine methyltransferase d...
Thoracic aortic aneurysm
Thoracic aortic aneurysm and a...
Thoracic aortic aneurysm and p...
Thoracic aortic aneurysms
Thoracic aortic aneurysms and ...
Thoracic aortic aneurysms and ...
Thoracic aortic disease & coro...
Thoracic aortic disease corona...
Thoracic aortic disease & stro...
Thoracic aortic disorder
Thoracic aortic disorder nonsy...
Thoracic aortic disorder syndr...
Thoracic ossification of ligam...
Three M syndrome
Three M syndrome 1
Thromboasthenia-like phenotype
Thrombocythaemia essential
Thrombocythemia 1
Thrombocythemia 3
Thrombocytopaenia
Thrombocytopaenia 1
Thrombocytopaenia early-onset
Thrombocytopaenia & haematolog...
Thrombocytopaenia myelofibrosi...
Thrombocytopaenia with excessi...
Thrombocytopathy
Thrombocytopenia
Thrombocytopenia 2
Thrombocytopenia 4
Thrombocytopenia 5
Thrombocytopenia 6
Thrombocytopenia, platelet dys...
Thrombocytopenia, X-linked
Thrombocytopenia, X-linked, in...
Thrombocytosis
Thromboembolic disease
Thromboembolism
Thrombophilia
Thrombophilia due to activated...
Thrombophilia due to protein S...
Thrombophilia due to thrombomo...
Thrombophilia, hereditary, due...
Thrombophilia, hereditary, due...
Thrombophilia, histidine-rich ...
Thrombophilia severe
Thrombosis
Thrombosis venous
Thrombotic microangiopathy
Thrombotic microangiopathy fol...
Thrombotic stroke
Thrombotic thrombocytopaenic p...
Thrombotic thrombocytopaenic p...
Thrombotic thrombocytopenic pu...
Thromboxane A2 receptor defici...
Thromboxane synthetase deficie...
Thymoma
Thyroid adenoma follicular
Thyroid agenesis
Thyroid cancer
Thyroid cancer non-medullary
Thyroid cancer, nonmedullary, ...
Thyroid carcinoma
Thyroid carcinoma medullary
Thyroid carcinoma medullary la...
Thyroid carcinoma non-medullar...
Thyroid dysfunction and respir...
Thyroid dysgenesis
Thyroid dyshormonogenesis
Thyroid dyshormonogenesis 1
Thyroid dyshormonogenesis 6
Thyroid hormone metabolism, ab...
Thyroid hormone resistance
Thyroid Hormone Resistance
Thyroid hormone resistance aty...
Thyroid hormone resistance, ge...
Thyroid hormone resistance, se...
Thyroid Hormonogenesis Defect
Thyroid hypoplasia
Thyroid peroxidase deficiency
Thyroid-stimulating hormone de...
Thyroid-stimulating hormone re...
Thyroid-stimulating hormone re...
Thyroid tumour
Thyroid tumours
Thyrotoxic hypokalaemic period...
Thyrotoxicosis gestational
Thyroxine-binding globulin def...
Thyroxine-binding globulin def...
Thyroxine-binding globulin def...
Tietz syndrome
Tietz/Waardenburg type IIA syn...
TiRAP deficiency
TK2 deficiency
TLR3 deficiency
TNF receptor-associated period...
TNF receptor binding, altered
Tobacco addiction, susceptibil...
Tobacco use disorder
Tonsillar hypertrophy and sarc...
Tooth agenesis
Tooth agenesis non-syndromic
Tooth agenesis, selective, 3
Tooth agenesis, selective, 4
Tooth agenesis, selective, 7
Tooth agenesis, selective, 8
Tooth agenesis, selective, 9
Tooth agenesis, selective, X-l...
Torg syndrome
Torg syndrome with cardiac mal...
Torg-Winchester syndrome
Toriello-Carey syndrome
Torsades de pointes
Torsion dystonia early onset
Total anomalous pulmonary veno...
Total iodide organification de...
Tourette syndrome
Tourette Syndrome
TP63-Related Spectrum Disorder...
TPMT deficiency
TRAF3 deficiency
Transaldolase deficiency
Transcobalamin I deficiency
Transcobalamin II deficiency
Transient infantile liver fail...
Transient neonatal cholestasis
Transient neonatal diabetes me...
Transient neonatal diabetes me...
Transient neonatal diabetes me...
Transient Neonatal Diabetes, R...
Transient neonatal zinc defici...
Transitional cell carcinoma of...
Transposition of the great art...
Transposition of the great art...
Transposition of the great ves...
Treacher Collins syndrome
Treacher Collins syndrome/Hypo...
Treacher Collins Syndrome, Rec...
Tremor
Tremor-ataxia with central hyp...
Trichiasis
Tricho-dento-osseous syndrome
Trichoepithelioma multiple fam...
Trichohepatoenteric syndrome
Trichohepatoenteric syndrome 1
Tricho-hepato-enteric syndrome...
Trichomegaly
Trichothiodystrophy
Trichothiodystrophy 1, photose...
Trichothiodystrophy 2, photose...
Trichothiodystrophy 6, nonphot...
TRICHOTHIODYSTROPHY 7, NONPHOT...
Trichothiodystrophy nonphotose...
Trichothiodystrophy, nonphotos...
Trichothiodystrophy photosensi...
Trichothiodystrophy/Xeroderma ...
Trichotillomania
Tricuspid atresia
TRIF deficiency
Triglyceride storage disease w...
Trimethylaminuria
Trimethylaminuria and hypothyr...
Triosephosphate isomerase defi...
Triosephosphate isomerase manc...
Triple-A syndrome
Trismus-pseudocamptodactyly sy...
Tritanopia
Tropical chronic pancreatitis
Troyer syndrome
Troyer syndrome with mitochond...
Truncal ataxia hypotonia devel...
Truncus arteriosus
Tryptophan 5-monooxygenase def...
TTC19 deficiency
Tuberous sclerosis
Tuberous sclerosis 1
Tuberous sclerosis 2
Tuberous sclerosis and lymphan...
Tuberous sclerosis complex
Tuberous sclerosis syndrome
Tuberous sclerosis with renal ...
Tubular aggregate myopathy
Tubular-aggregate myopathy
Tubular myopathy & miosis
Tubulinopathies
Tubulinopathy
Tubulointerstitial kidney dise...
Tubulointerstitial nephritis
Tubulointerstitial nephropathy...
Tumoral calcinosis, familial, ...
TUMORAL CALCINOSIS, HYPERPHOSP...
Tumoral calcinosis normal kidn...
Tumor susceptibility linked to...
Tumoural calcinosis
Tumoural calcinosis hyperphosp...
Tumoural calcinosis normophosp...
Tumoural calcinosis with hyper...
Turcot syndrome
Tylosis oesophageal cancer
Type 1 predominance plus myopa...
Type A1 brachydactyly
Type A2 brachydactyly
Type C brachydactyly
Type D brachydactyly
Type II Collagenopathies
Type IV short rib polydactyly ...
Tyrosinaemia 1
Tyrosinaemia 2
Tyrosinaemia 3
Tyrosinase deficiency
Tyrosinase-negative oculocutan...
Tyrosinase-positive oculocutan...
Tyrosine hydroxylase deficienc...
Tyrosine kinase 2 deficiency
Tyrosinemia type 2
Tyrosinemia type 3
Tyrosinemia type I
Ubiquinone deficiency with cer...
UDPglucose-4-epimerase deficie...
Ulcerative colitis
Ullrich congenital muscular dy...
Ullrich congenital muscular dy...
Ullrich congenital muscular dy...
Ullrich congenital muscular dy...
Ulnar and fibula absence with ...
Ulnar-mammary syndrome
Ultraviolet-sensitive syndrome
Uncombable hair syndrome
Uner Tan syndrome
Unilateral duplex kidney with ...
Unilateral renal agenesis
Unverricht-Lundborg syndrome
Upper motor neuron syndrome ad...
Upshaw-Schulman syndrome
Ureteropelvic junction obstruc...
Ureteropelvic junction obstruc...
Ureteropelvic junction obstruc...
Urethral atresia
Uridine 5-prime monophosphate ...
Urinary bladder sphincter dysf...
Urinary tract anomalies
Urocanate hydratase deficiency
Urocanic aciduria
Urofacial syndrome
Urofacial syndrome 2
Uromodulin-associated kidney d...
Uromodulin-associated kidney d...
Urticaria chronic and angioede...
Uruguay faciocardiomusculoskel...
Usher syndrome
Usher syndrome 1
Usher syndrome 1b
Usher syndrome 1c
Usher syndrome 1f
Usher syndrome 1j
Usher syndrome 2
Usher syndrome 3
Usher syndrome 3a
Usher syndrome atypical
Usher syndrome, type 1
Usher syndrome, type 1B
Usher syndrome, type 1C
Usher syndrome, type 1D
Usher syndrome, type 1F
Usher syndrome, type 2D
Usher syndrome, type 3A
Usher syndrome, type 3B
USHER SYNDROME, TYPE IV
Uterine carcinoma
Uterine fibroids
Uterine leiomyomas early-onset
Uveal/cutaneous melanoma
Uveal melanoma
Uveal melanoma peritoneal meso...
Uveitis
UV-sensitive syndrome 2
UV-sensitive syndrome 3
VACTERL association with hydro...
Van der Woude syndrome
Van der Woude syndrome 2
Van der Woude syndrome / popli...
Vanishing testis
Vanishing white matter disease
Vanishing white matter disease...
Vanishing white matter disease...
Vanishing white matter disease...
Vanishing white matter disease...
Vanishing white matter disease...
Vanishing white matter disease...
Variegated aneuploidy
Variegate porphyria
Variegate porphyria, homozygou...
VARS2-related mitochondrial di...
Vascular anomalies
Vascular elastogenesis
Vasculitis
Vasculopathy
VATER association
VATER/VACTERL association with...
VATER/VACTERL phenotype
Vein of Galen aneurysmal malfo...
Vein of Galen malformation
Vein of Galen malformation cho...
Vein of Galen malformation mur...
Velocardiofacial syndrome
Venous malformation
Venous thromboembolism
Venous thrombosis
Ventricular arrhythmia & sudde...
Ventricular fibrillation
Ventricular fibrillation idiop...
Ventricular pre-excitation & c...
Ventricular septal defect
Ventricular septal defect 1
Ventricular septal defect 3
Ventricular septal defect with...
Ventricular tachycardia
Ventricular tachycardia, catec...
Ventricular tachycardia, catec...
Ventricular tachycardia idiopa...
Ventricular tachycardia polymo...
Ventricular tachycardia, polym...
Ventricular tachycardia, somat...
Ventriculomegaly prenatal
Ventriculoseptal defect
Verheij syndrome
Verrucosis & immunodeficiency
Vertebral malformation
Vertical talus and Charcot-Mar...
Vertical talus, congenital
Very long chain acyl-CoA dehyd...
Vesicoureteral reflux
Vesicoureteral reflux 2
Vibratory urticaria
Visceral heterotaxy 5, autosom...
Visceral myopathy
Visceral myopathy familial
Visual impairment
VISUAL IMPAIRMENT AND PROGRESS...
Visual loss progressive microc...
Vitamin B2 deficiency
Vitamin D-Dependent Rickets
Vitamin D-dependent rickets, t...
Vitamin D-dependent rickets, t...
Vitamin d hydroxylation-defici...
Vitamin K-Dependent Clotting F...
Vitamin k-dependent clotting f...
Vitamin k-dependent clotting f...
Vitamin K-dependent clotting f...
Vitamin-K-dependent coagulatio...
Vitelliform macular dystrophy ...
Vitiligo
Vitreoretinochoroidopathy
Vitreoretinochoroidopathy auto...
Vitreoretinopathy
Vitreoretinopathy neovascular ...
Vitreoretinopathy, neovascular...
Vitreoretinopathy with phalang...
Vocal chord paralysis isolated
Vocal chord & pharyngeal weakn...
Vohwinkel syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome & p...
Von Hippel-Lindau syndrome typ...
Von Hippel-Lindau syndrome typ...
Von Willebrand disease
Von Willebrand disease 1
Von Willebrand disease 1h
Von Willebrand disease 2
Von Willebrand disease 2a
Von Willebrand disease 2a/2b
Von Willebrand disease 2a/2c
Von Willebrand disease 2a/2m
Von Willebrand disease 2b
Von Willebrand disease 2b-like
Von Willebrand disease 2c
Von Willebrand disease 2m
Von Willebrand disease 2n
Von Willebrand disease 2n/1
Von Willebrand disease 2u
Von Willebrand disease 3
Von Willebrand disease platele...
Von Willebrand disease, recess...
von Willebrand disease type 1
von Willebrand disease type 2
von Willebrand disease, type 2...
von Willebrand disease, type 2...
von Willebrand disease type 2M
von Willebrand disease type 2N
von Willebrand disease type 3
von Willebrand disorder
Von Willebrand Normandy varian...
VWS-PPS spectrum disorder with...
Waardenburg anophthalmia syndr...
Waardenburg anophthalmia syndr...
Waardenburg-Hirschsprung disea...
Waardenburg syndrome
Waardenburg syndrome 1
Waardenburg syndrome 2
Waardenburg syndrome 2E
Waardenburg syndrome 2 with pi...
Waardenburg syndrome 3
Waardenburg syndrome 4
Waardenburg syndrome 4B
Waardenburg syndrome type 1
Waardenburg syndrome type 2A
Waardenburg syndrome type 2E
Waardenburg syndrome type 2E, ...
Waardenburg syndrome type 2E, ...
Waardenburg syndrome type 4A
Waardenburg syndrome type 4B
Waardenburg syndrome type 4C
Waddling gait
Walker-Warburg congenital musc...
Walker-Warburg syndrome
Walker-Warburg syndrome / musc...
Walker-Warburg syndrome with l...
Warburg-Cinotti syndrome
Warburg micro syndrome
Warburg Micro syndrome
Warburg micro syndrome 1
Warburg micro syndrome 3
Warfarin resistance
Warfarin response
Warfarin sensitivity
Warsaw breakage syndrome
Warsaw breakage syndrome with ...
Warts, hypogammaglobulinemia, ...
WDR35-Related Disorders
Weakened S antigen expression
Weaver like syndrome
Weaver syndrome
Weaver syndrome with acute mye...
Webbed neck hypertelorism ptos...
Weill-Marchesani syndrome
Weill-Marchesani syndrome 1
Weill-Marchesani syndrome 4
Weissenbacher-Zweymuller syndr...
Welander distal myopathy
Werdnig-Hoffmann disease
Werner syndrome
Werner syndrome atypical
Werner syndrome atypical with ...
Werner syndrome with ischemic ...
Wernicke's-like encephalopathy
West syndrome
West syndrome developmental re...
West syndrome failure to thriv...
West syndrome with autistic fe...
West syndrome with development...
West syndrome with hypotonia
Weyers acrodental dysostosis
WHIM syndrome
White matter & corpus callosal...
White matter disease intellect...
White sponge nevus
White sponge nevus 2
White sponge nevus of cannon
Wide anterior fontanel
Wieacker Wolff syndrome
Wiedemann-Rautenstrauch syndro...
Wiedemann-Steiner syndrome
Wilms tumor 1
Wilms tumor and radial bilater...
Wilms tumor, aniridia, genitou...
Wilms tumour
Wilson disease
Wilson disease with early and/...
Wilson disease with neuropsych...
Wilson-Turner X-linked mental ...
Winchester disease
Winchester syndrome
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome 2
Wiskott-Aldrich syndrome, atte...
Wolcott-Rallison dysplasia
Wolcott-Rallison syndrome
Wolff-Parkinson-White pattern
Wolff-Parkinson-White syndrome
Wolff-Parkinson-White syndrome...
Wolff-Parkinson-White syndrome...
Wolff-Parkinson-White syndrome...
Wolfram syndrome
Wolfram syndrome 2
Wolman disease
Woolly hair
Woolly hair autosomal dominant
Woolly hair, autosomal dominan...
Woolly hair autosomal dominant...
Woolly hair, autosomal recessi...
Woolly hair/ PPK/cardiomyopath...
Worster Drought syndrome
Worth disease
Xanthinuria
Xanthinuria type 1
Xanthinuria type 2
Xanthurenic aciduria
XDH deficiency
Xerocytosis hereditary
Xeroderma pigmentosum
Xeroderma pigmentosum (A)
Xeroderma pigmentosum (C)
Xeroderma pigmentosum / Cockay...
Xeroderma pigmentosum/Cockayne...
Xeroderma pigmentosum, complem...
Xeroderma pigmentosum (E)
Xeroderma pigmentosum (F)
Xeroderma pigmentosum (G)
Xeroderma pigmentosum, group C
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group E
Xeroderma pigmentosum, group G
Xeroderma pigmentosum group g/...
Xeroderma pigmentosum, type 1
Xeroderma pigmentosum, type f/...
Xeroderma pigmentosum variant
Xeroderma pigmentosum, variant...
XFE progeroid syndrome
XIAP deficiency
X-linked agammaglobulinemia
X-linked agammaglobulinemia wi...
X-linked deafness
X-linked dilated cardiomyopath...
X-linked dominant Parkinson di...
X-linked hereditary motor and ...
X-linked hydrocephalus syndrom...
X-linked ichthyosis with stery...
X-linked intellectual disabili...
X-linked intellectual disabili...
X-linked Joubert syndrome & or...
X-Linked Lymphoproliferative S...
X-linked mental retardation
X-Linked Mental Retardation 41
X-Linked mental retardation 90
X-linked mental retardation & ...
X-linked mixed deafness
X-linked myopathy with excessi...
X-linked myopathy with postura...
X-linked severe combined immun...
XRCC3 deficiency
XX gonadal dysgenesis
XY gonadal dysgenesis
XY sex reversal
XY sex reversal and adrenal in...
XY sex reversal with adrenal f...
XY sex reversal without adrena...
Yemenite deaf-blind hypopigmen...
You-Hoover-Fong syndrome
Young adult-onset very slowly ...
Young Simpson syndrome
Yunis Varon syndrome
Yunis-Varon syndrome
ZAP70 deficiency
ZAP70-Related Severe Combined ...
Zebra body myopathy
Zellweger spectrum disorder mo...
Zellweger syndrome
Zellweger syndrome 2
Zellweger syndrome C
Zellweger syndrome H
Zimmermann-Laband syndrome
Zimmermann-Laband syndrome 1
Zimmermann-Laband syndrome 2
Zinc deficiency in breast milk
Zinc deficiency, transient neo...
ZNF711-Related X-linked Mental...
Zonular Pulverulent Cataract
Zonular pulverulent cataract 3
Zunich neuroectodermal syndrom...