- Select Disease -
Dysferlinopathy (LGMD2B) (1)
Rigid Spine Muscular Dystrophy (RSMD) (1)
(FSHD) Distrofia Muscular Facioescapulohumeral (1)
10p Deletion Syndrome (1)
11q Terminal Deletion Disorder (Jacobsen Syndrome) (1)
12p13.32 deletion (1)
16p12.2 Deletion (1)
16q24.3 microdeletion syndrome (2)
17 mutaciones genéticas y 13 enfermedades diagnosticadas (1)
17q12 microduplication syndrome (1)
17q21.33 deletion, Osteogenesis Imperfecta (1)
19q 12-13.31 Duplication (2)
1p36 deletion syndrome (3)
1q21.1 microdeletion syndrome (1)
1q41q42.12 microdeletion (1)
22q11 (2)
2p25.3 Deletion & 10q26.1 Duplication (1)
3q29 duplication and 6p25 deletion syndromes (1)
4H Leukodystrophy (1)
4H Leukodystrophy POLR3B (1)
4Q Deletion 32.1-Terminal (1)
9q33.3q34.11 microdeletion syndrome (1)
9q34 Duplication syndrome and 10q24 deletion syndrome. (1)
Aarskog syndrome (1)
Abetalipoproteinemia (1)
Abetalipoproteinemia/ Undiagnosed (1)
ACER3-related early childhood-onset progressive Leukodystrophy (1)
Achalasia (3)
Achalasia cardia (3)
Achondroplasia (1)
Acquired cutis laxa (1)
Acrodermatitis enteropathica (1)
Acromegaly (6)
Acute disseminated encephalomyelitis (1)
Acute Flaccid Myelitis (1)
ACUTE HEPATIC PORPHYRIA (1)
Acute intermittent porphyria (3)
Acute Lymphoblastic Leukaemia (1)
Acute Necrotizing Encephalopathy (2)
Acute necrotizing encephalopathy of childhood (1)
Acute respiratory distress syndrome (ARDS) (1)
Acute Zonal Occult Outer Retinopathy and Ehlers Danlos Syndrome. (1)
ADCA, Autosomal dominant cerebellar ataxia (1)
Addison (1)
Addison disease (3)
Addison's Disease (7)
Addison's Disease (Primary Adrenal Insufficiency) (1)
Addisons Disease & h(EDS) (hypermobile Ehlers Danlos Syndrome) (1)
Addisons, Ehlers-Danlos Syndrome (1)
Adducted thumb-clubfoot syndrome (1)
ADEM (2)
Adenosine Kinase Deficiency (1)
Adhesive arachnoiditis & Tarlov cyst disease (1)
ADNP Syndrome / Helsmoortel-VanDerAa Syndrome (1)
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder (1)
ADNP-related syndromic intellectual disability-autism spectrum disorder (1)
Adrenal insufficiency-achalasia-alacrima syndrome (1)
Adrenoleukodystrophy (2)
Adrenomyeloneuropathy (2)
Adult cardiac tumor (1)
Adult-onset Still disease (1)
Afibrinogenemia (2)
Agammaglobulinemia (2)
Agenesia of the Corpus Callosum (1)
Agenesis of the corpus callosum (1)
Agenesis of the corpus callosum, dysgyria, megalencephaly, autism (1)
Aggressive fibromatosis (1)
Aggressive fibromatosis and granuloma (1)
AHUS (1)
Aicardi syndrome (2)
Aicardi-Goutières syndrome (3)
AL Amyloidosis (3)
Alagille syndrome (4)
Alexander disease (3)
Alexanders disease (1)
Alexander’s Disease/Severe Congenital Factor VII Deficiency (1)
Alkaptonuria (4)
All rare diseases (0)
Allergic Bronco Pulmonary Aspergillosis (1)
Alloimmunization, Hemolytic Disease of the Fetus and Newborn (HDFN) (1)
Alopecia (1)
Alopecia universalis (1)
Alpha 1 (1)
Alpha-1-antitrypsin deficiency (3)
Alport syndrome (2)
ALS (1)
Alstrom Syndrome (1)
Alteracion al Mecp2, Sóndrome de Rett (1)
Alternating hemiplegia of childhood (2)
Ameloblastoma (1)
Amelogenesis imperfecta (1)
Amyliodosis Al (1)
Amylodosis (1)
Amyloidosis (1)
Amyloidosis FMF, (1)
Amyotrophic lateral sclerosis (1)
Amyotrophic lateral sclerosis (ALS) (1)
Amyotrophie spinale de type 2 (1)
ANCA Associated with Vasculitis, PGA, Anti-neutrophil cytoplasmic antibody-associated vasculitis (1)
ANCA positive protanase 3 small vein Vasculitis (1)
ANCA Vasculitis (1)
ANCA-associated vasculitis / GBM (1)
ANE (1)
Aneuploidia variabile mosaico (1)
Angelman syndrome (2)
Angelman syndrome due to paternal uniparental disomy of chromosome 15 (1)
Angelman Syndrome UPD (2)
Angioedema and Myasthenia Gravis (1)
Angioedema hereditario tipo 1 (1)
Aniridia (3)
Ankylosing Spondylitis (Form of rheumatism) (1)
Anorrectal Malformation (1)
Anti phospholipid antibody syndrome (APS), chronic immune thrombocytopenia (1)
Antiphospholip Sindrom (1)
Antiphospholipid (1)
Antiphospholipid syndrome (2)
Antiphospholipid Syndrome, Thrombocytopenia (1)
Antisynthetase Syndrome (1)
Aplastic anemia (1)
Appendix Cancer & Paraganglioma tumor (1)
APS type 1, APECED (1)
Arachnoid Cyst and undiagnosed problems (1)
Arachnoiditis (3)
Arcodysostosis (1)
Argininemia (1)
ARHGEF9 Gene Mutation (1)
ARID1B/Coffin Siris Syndrome and Lennox Gastaut Syndrome (1)
Arnold Chiari Malformation (1)
Arnold Chiari Malformation type 1, Gastroparesis, Intestinal Failure, Trigeminal Neuralgia, Spontaneous Intracranial Hypotension, Ehlers Danlos Syndrome, Rare genetic Autoinflammatory Syndrome (1)
Arnold Chiari Syndrome (type I) (1)
Arnold Chiari Syndrome type 1, Gastroparesis, Intestinal Failure, Trigeminal Neuralgia, Spontaneous Intracranial Hypotension, Ehlers Danlos Syndrome, Rare genetic Autoinflammatory Syndrome (1)
Aromatic L-amino acid decarboxylase (AADC or AAAD) (1)
Aromatic L-Amino Acid Decarboxylase Deficiency (1)
ARPC4 genetic variant (1)
ARPKD (1)
Arterial Thoracic Outlet Syndrome (1)
Arterial tortuosity syndrome (ATS) (1)
Arteriovenous malformation (avm) (2)
Arteritis (1)
Arthogryposis Multiplex Congenita (1)
Arthrogryposis multiplex congenita (1)
Arthrogryposis syndrome (1)
Artritis psoriática (0)
ARVC (1)
Aspergillosis (1)
Ataxia (2)
Ataxia de Friedreich (2)
Ataxia de Friedrich (3)
Ataxia neuropathy spectrum (1)
Ataxia with occulomotor apraxia (1)
Ataxia-telangiectasia (3)
Ataxie Spinocebeloasă (1)
Atransferinnemia congenita (1)
Atresia ani (1)
Atrofia de Múltiplos Sistemas (1)
ATROFIA MUSCULAR ESPINAL (2)
Atrofia muscular espinal tipo 1 (1)
Atrofia Muscular espinhal tipo 2 (1)
Attenuated familial adenomatous polyposis (1)
Attenuated familial adenomatous polyposis (AFAP) (2)
Attenuated FAP (1)
Atypical Hemolytic Uremic Syndrome (1)
Atypical hemolytic uremic syndrome (aHUS) (1)
Atypical Hemolytic Uremic Syndrome or Complement-Mediated Thrombotic Microangiopathy (1)
Atypical hemolytic-uremic syndrome with anti-factor H antibodies (1)
Atypical Trigeminal Neuralgia (1)
Autoimmune enteropathy (1)
Autoimmune hepatitis (5)
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome (1)
Autoimmune neutropenia (1)
Autoimmune polyendocrine syndrome type 1 (2)
Autosomal Dominant Retinal Dystrophy (1)
Autosomal recessive polycystic kidney disease (ARPKD) (1)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (1)
Avascular necrosis (3)
Avascular necrosis (AVN) (1)
AVM - arterovenous malformation ( MAV ) (1)
Axenfeld-rieger syndrome PITX2 and macrocephaly (1)
Axial peripheral neuropathy caused by a mutation of the Mfn2 gene (1)
Bainbridge Ropers Syndrome (1)
Bannayan-Riley-Ruvalcaba syndrome (1)
Baraitser-Winter syndrome and Retinitis pigmentosa (1)
Bardet Biedl Syndrome (2)
Barth Syndrome (1)
Bartter syndrome (3)
Bartter syndrome type 2 (1)
Bartter syndrome type 3 (1)
Batten Disease (1)
Batten disease CLN1 (1)
BATTENS CLN1 (1)
BBS (1)
BCAP31-related disorder (1)
Bechet , myasthenia gravis.hashimoto. (1)
Becker Muscular Dystrophy (2)
Beckwith wiedemann (1)
Beckwith Wiedemann Syndrome (1)
Beckwith Wiedemann Syndrome and Metopic Craniosynostosis (1)
Behcet's (1)
BEHCET's, MYASTHENIA GRAVIS, HASHIMOTO, MAST CELL DISSORDER (1)
Behcet's, myasthenia gravis, sabre bruise morphea on the forehead, transverse myelitis, inflammatory bowel disease (1)
Behcets Disease and Crohn's Disease (1)
Behcet’s Disease, Sjögren’s Syndrome, Selective IgA Deficiency (1)
Behçet (1)
Behçet disease (11)
Behçet disease and Addisons Disease (1)
Behçet's Disease (3)
Behçet’s Disease, gastroparesis (1)
BENTA (1)
Beta-thalassemia (1)
BH4 Deficiency (2)
Biallelic mutations in VWA1 cause a hereditary motor neuropathy 2 with myopathic features (1)
Bile acid synthesis defect with cholestasis and malabsorption (1)
Biliary atresia (3)
Biotinidase deficiency (1)
Birk Barel (1)
Bladder exstrophy (2)
Bladder exstrophy-epispadias-cloacal extrophy complex (1)
Blastomycosis (1)
Blepharofimosis (BPES) (1)
Blepharospasm-oromandibular dystonia syndrome (1)
Blue Rubber Bleb Nevus Syndrome (1)
Bohring-Opitz syndrome (1)
BPAN (1)
BPAN -Beta propeller Protein Associated Neurodegeneration (1)
BPAN, an NBIA Disorder (1)
Brain arteriovenous malformation (1)
Brain Basilar & Vertebrobasilar Mega-Dolicho-Ectasia (1)
Brain Cavernoma (thalamus Region) (1)
Brain haemorrhage, hydrocephalus, epilepsy, cerebral palsy, severe developmental delays, cortical vision impairment, (1)
Brain-Lung-Thyroid Syndrome (NKX2-1) (1)
Brain-lung-thyroid syndrome, interstitial lung disease, Nkx2.1 (1)
Branchio-oto renal syndrome (1)
Branchio-oto-renal Sydrome (1)
Branchiootorenal Syndrome
(1)
Bronchiolitis Obliterans (1)
Brooke-Spiegler syndrome (1)
Brown syndrome (1)
Brucellosis (1)
Brugada Syndrome (1)
Börjeson-Forssman-Lehman Syndrome (1)
CACNA1A (1)
CACNA1C disorder, epilepsy, low muscle tone, chronic pulmonary disorder, long QT syndrome (1)
CAD Gene Deficiency (1)
CADASIL (1)
Camurati Engelmann's Disease (1)
Camurati-Engelmann disease (2)
Canavan disease (1)
Cantú Syndrome (1)
CANVAS (1)
Carcinoid syndrome (1)
Carnitine palmitoyl transferase deficiency type 2, neonatal form (1)
Caroli disease (2)
Carotid and renal fibromuscular dysplasia (1)
CASK gene disorder (1)
CASK Gene mutation (2)
Catastrophic Antiphospholipid Syndrome (1)
Catecholamine-producing tumor (1)
Cavernoma (1)
Cavernoma - CCM3 gene (1)
Cavernous Angioma (3)
Cavernous Angioma of the brain - CCM1 gene positive (1)
Cavernous Angiomas (2)
Cavernous Hemangioma’s (1)
Cavernous lymphangioma (1)
Cavernous Peduncle (1)
CCHS (1)
Cd4+ tcell lymphoroliterative lymphoma (1)
CDG (2)
CDKL5 (1)
CDKL5 Deficiency Disorder (1)
CDPX1 (1)
Celiac Artery Compression Syndrome (1)
Center Nerve Pain Stroke (1)
Central Conducting Lymphatic Anomaly (CCLA) (1)
Central core congenital myopathy and malignant hyperthemia (1)
Central Core Disease (1)
Central Core Disease, (MHS) HIPERTERMIA MALIGNA (1)
Central diabetes insipidus (1)
Central Pain Syndrome and Cavernous Malformations (1)
Central Pain Syndrome, Cavernous Malformations (2)
Centronuclear Myopathy (1)
Cerebral arteriovenus malformation (1)
Cerebral malformation, Cerebral Cavernous Angioma (1)
Cerebral palsy (Lisssenchepaly) (1)
Cerebrospinal fluid leak (1)
CFC Syndrome (1)
Champ 1 Gene Mutation (1)
CHAMP1 (2)
CHAMP1 gene mutation (1)
Champ1 mutation (1)
Charcot-Marie-Tooth (1)
Charcot-Marie-Tooth 2Z (1)
Charcot-Marie-Tooth disease (3)
Charcot-Marie-Tooth disease type 1 (1)
Charcot-Marie-Tooth disease type 1A (2)
Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3) (1)
CHARGE syndrome (1)
CHD2 (1)
Chiari & Syringomyelia (1)
Chiari Malformation (1)
Chiari Malformation & Syringomyelia (1)
Chiari malformation type (1)
Chiari malformation type 1 (1)
Chiari malformation type II (1)
Chiari Malformation, Trigeminal Neuralgia, Ehlers Danlos Syndrome, Syringomyelia, Postural Orthostatic Tachycardia Syndrome, (1)
Chiari, Ehlers Danlos, POTS, Lupus (1)
Chiari, IIH, EDS, Gastroparesis, Occipital and Trigeminal neuralgia, chronic migraine (1)
Choledochal cyst (1)
Cholesteatoma (3)
Cholesteryl ester storage disease (1)
CHOPS syndrome (1)
Choroiditis (1)
Christianson syndrome (2)
Chromosome 14 and 21 duplication (1)
Chromosome 18p deletion (1)
Chromosome 18q Distal Deletion (2)
Chromosome 18q-proximal deletion (1)
Chromosome 8p disorder (8p23.1 deletion) (2)
Chromosome 9p22 Deletion Syndrome or Alfi Syndrome (1)
Chronic Clusterheadache and Chronic paroxysmal hemicrania (1)
Chronic hiccup (1)
Chronic Idiopathic Thrombocytopenic Purpura (1)
Chronic inflammatory demyelinating polyneuropathy (5)
Chronic intestinal failure, Short bowel syndrome. (1)
Chronic intestinal pseudobstruction (CIPO) (1)
Chronic intestinal pseudoobstruction (1)
Chronic myeloid leukemia (3)
Chronic pancreatitis with EPI (1)
Chronic pneumonia, chronic anemia, Lupus (1)
Chronic Q fever (1)
Chronic recurrent multifocal osteomyelitis (3)
Chronic thromboembolic pulmonary hypertension (1)
Chylomicron retention disease (1)
Chylothorax idiopathique (1)
CIDP (3)
CITOPATIA MITOCONDRIAL ASOCIADO A MTCO3 (1)
CITRULINEMIA (1)
Classical Ehlers-Danlos Syndrome (1)
Classical PKU (1)
Clediocrainial dysplasia (1)
CLN1 (Battens Disease) (1)
CLN1 Batten Disease (3)
CLN2 Batten Disease (1)
CLN2 Batten Disease & Ververi Brady Syndrome (1)
CLN2- Battens Disease (1)
Cloacal exstrophy (1)
Cloves / Ktw syndrome (1)
CLOVES Syndrome (2)
Cluster headaches (1)
CMAM (1)
CMD LAMA2 (1)
CMM (1)
CMT (2)
CMT4J (1)
CMTC (1)
CMTC and Other Vascular Malformations (1)
CNL 8 (1)
Coats Disease (2)
Cockayne Syndrome (3)
Coffin Siris Syndrome (1)
Coffin-Lowry syndrome (2)
Cogan's Syndrome (1)
Cohen Syndrome (2)
COL4A1 mutation, refractory epilepsy, Peter’s Anomaly (1)
COL6 (1)
Cold Agglutinin Disease (1)
Cold Urticaria (1)
Collagenous Gastritis (1)
Combined d-2- and l-2-hydroxyglutaric aciduria (1)
Combined oxidative phosphorylation defect, a genesis of the corpus callosities, aicardi syndrome (1)
Combined pituitary hormone deficiencies, genetic forms (1)
Common Variable Immune Deficiency (1)
Common variable immune deficiency bronchiectasis factor v Leiden protein c deficiency hx desmoid tumor (1)
Common variable immunedeficiency (CVID) (1)
Common variable immunodeficiency (7)
Common variable immunodeficiency (CVID) (2)
Common variable immunodeficiency, epilepsy, calcium deposits on brain, decreased white matter, rheumatoid idiopathic arthritis, von willebrand disease (1)
Common varieties immune deficiency, Factor V Leiden, Bronchiectasis (1)
Complex hereditary spastic paraplegia (1)
Complex Lymphatic Anomalies (1)
Complex Lymphatic Anomaly (Generalized Lymphatic Anomaly - GLA) (1)
Complex regional pain syndrome (16)
Complex Regional Pain Syndrome (CRPS) (1)
Complex regional pain syndrome (CRPS) , Autonomic Dysfunction, Small Fiber Polyneuropathy , Irritable Bowel Syndrome , Undiagnosed GI (1)
Complex regional pain syndrome type 1 (1)
Complex regional pain syndrome type 2 (1)
Complex regional pain syndrome type 2 (CRPS2) (1)
Complex vascular malformation with associated anomalies (2)
Condrodisplasia progressiva pseudo reumatoide (1)
Congenital adrenal hyperplasia (6)
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (1)
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (1)
Congenital Central Hypoventilation Syndrome (2)
Congenital Central Hypoventilation Syndrome or CCHS (1)
Congenital Diaphragmatic Eventration (1)
Congenital diaphragmatic hernia (3)
Congenital diaphragmatic hernia, pulmonary hypertension, dysautonomia (1)
Congenital disorder of glycosylation type ALG1 (1)
Congenital dyserythropoietic anemia 1a (1)
Congenital erythropoietic porphyria (1)
Congenital femoral deficiency and Fibular hemimelia (1)
Congenital Glaucoma (1)
Congenital Listeriosis (Listeria) (1)
Congenital Melanocytic Naevi (1)
Congenital Muscular Dystrophy (1)
Congenital muscular dystrophy, Ullrich type (1)
Congenital myasthenic syndrome (1)
Congenital myopathy with myasthenic-like onset (1)
Congenital pulmonary lymphangiectasia (1)
Congenital sucrase - Iiomaltase deficiency (1)
Congenital sucrase-isomaltase deficiency (2)
Congenitale Mikrogastrie, Oesophagusstenose, Reflux (1)
Connectivity and LES, Lupus (1)
CoPAN disease (1)
Coreia acantocitose (1)
Corneal Neuralgia (1)
Corneal neuralgia, ocular neuropathic pain, Meesmanns dystrophy, corneal dystrophy, Sjogren’s syndrome (0)
Cornelia de Lange syndrome (3)
Corticobasal Degeneration (1)
Costello Syndrome (1)
Cowden Sydrome (1)
Cowden syndrome (3)
Creatine transporter deficiency (1)
Creatine Transporter Deficiency Syndrome (1)
CREST syndrome (2)
Creutzfeldt-Jakob Disease (1)
Creutzfeldt-Jakob Disease (CJD) (1)
Cri du chat syndrome (2)
Crigler-Najjar syndrome (3)
Crigler-Najjar syndrome type 1 (1)
CRMO (Chronic recurrent multifocal osteomyelitis) (1)
Crouzon disease (2)
CRPS (4)
CRPS TYPE 2 (0)
Cryoglobulinemia ,Vulvar Cancer , G6PDD (1)
Cryoglobulinemic vasculitis (1)
Cryopyrin-associated periodic syndrome (1)
CTNNB1 Syndrome (3)
Cushing (1)
Cushing disease (3)
Cushing's Disease (3)
Cushings disease / Addisons disease (1)
Cushings syndrome (2)
Cutis Marmorata Telangiectatica Congenita (4)
CVID (9)
CYLD Cutaneous Syndrome (1)
Cystic Angiomatosis (3)
Cystic fibrosis (9)
Cystic fibrosis, CF related diabetes, CF related arthritis, Celiac disease, Thalassemia Minor (1)
Cystic hygroma (1)
Cystinosis (3)
Cystinosis & vocal chord palsy (1)
Cystinuria (1)
Dandy-Walker Syndrome (1)
Darier Disease (1)
Dcsi (1)
DCSI (CSID) (1)
DDX3X (2)
DDX3X mutation syndrome (1)
DDX3X Syndrome (1)
Defeating Duane syndrome (1)
Defective prmt7 (1)
Degos disease (1)
Deletie 1q21.1-1q21.2 (1)
Deletion and Duplication 13q (1)
Deletion and Duplication on 13q (1)
Deletion of 2P25.13 (1)
Deletion of chromosome 8 8p23.1 including GATA 4 (1)
Denys-Drash Syndrome (1)
Dercum disease (2)
Dercum disease, Ehlers-Danlos Syndrome, MCAS, Cushing’s Syndrome, Addison’s (1)
Dercum's Disease, Ehlers-Danlos Syndrome, MCAS, Cushing's, Adrenal Insufficiency (1)
Dermatomyositis (6)
Dermatomyositis and Sjögren’s (1)
Desbuquois dysplasia (1)
Desbuquois syndrome (2)
Desmoid tumor (1)
Desmoid type fibromatosis (1)
Diabetes Insipidus (1)
Diamond Blackfan Anemia (1)
Diffuse cutaneous systemic sclerosis (1)
Dilated cardiomyopathy (1)
DISAMMINATED PLASMOCYTOMA (1)
Discinesia Ciliar Primaria DCP e Narcolepsia (1)
Disorder of bile acid synthesis, with cholestasis and malabsorption (1)
Disorder of urea cycle metabolism and ammonia detoxification (1)
Displasia fibrosa ósea (1)
Distrofia muscular duchene (1)
Distrofia Neuroaxonal Infantil (INAD) (1)
Disturbo biogenesi perossisomi (1)
DMD (1)
DMJ (1)
Doença de POMPE (2)
Dominant Dystrophic Epidermolysis Bullosa (1)
Donnai-Barrow syndrome (2)
Dopa-responsive dystonia (DRD) (1)
Dravet syndrome (2)
DREPANOCYTOSE (1)
DRESS syndrome (1)
DTDS (SLC6A3) (1)
Duane Syndrome (1)
Duchenne muscular dystrophy (16)
Duchenne Muscular dzstrophz (1)
Dunbar Syndrome (1)
Duplication gene 15q (1)
Duplication of region 16q11.2-q21 (1)
DYRK1A Syndrome (5)
DYRK1A-related intellectual disability syndrome (1)
Dysautonomia, Mast cell activation syndrome & diabetes insipidus (1)
Dysautonomia/Ethlers Danlos Syndrome (1)
Dysgerminoma (1)
Dystonia (1)
Dystonia-plus syndrome (1)
Dystrophic Epidermolysis Bullosa (2)
Eagle Syndrome (2)
Eastern equine encephalitis (1)
ECHS1 (1)
ECHS1 Deficiency - Mitochondrial Disease (1)
ECHS1-D (1)
EDS, Scheuermanns, BlueRubber Bleb Syndrome (1)
EDS/Mast Cell/ Tarlov Cyst/ Neuropathy (1)
EDS; May-Thurner-&Nutcrackersyndrom; Nephrotose; Thoracic Outlet Syndrom; Endometriose/Adenomyose (1)
EEC syndrome (1)
EGPA (1)
EGPA, Congenital myasthenic syndrome (1)
Ehlers Danlos (1)
Ehlers danlos syndrome (kEds) (1)
Ehlers danlos syndrome, fibromyalgia, Psoratic arthritis (1)
Ehlers Danlos Syndrome, MCAS (1)
Ehlers danlos syndrome,Disautonomia,Median arcuate ligament syndrome,Superior Mesenteric Artery syndrome, May-Thurner syndrome, Pelvic congestion syndrome, severe gastroparesis, oropharingeal dysphagia ,esophageal dysphagia, small bowell dismotility (1)
Ehlers Danlos Syndrome/ Osteogenesis Imperfecta (1)
Ehlers Danlos tipo vascular (1)
Ehlers Danlos, Primary Immunodeficiency, Mast Cell Activation Syndrome, Hemaphagocytosis, Dysautonomia (1)
Ehlers Danlos, vascular type (1)
Ehlers-danlos + comorbidity's (1)
Ehlers-Danlos Sindrome (1)
Ehlers-Danlos syndrome (27)
Ehlers-Danlos syndrome and Pseudotumor cerebri (1)
Ehlers-Danlos syndrome hypermobility type (2)
Ehlers-Danlos syndrome type 3 (6)
Ehlers-Danlos syndrome type 3, immunodeficiency, mast cell activation syndrome "undiagnosed", craniocervical instability "undiagnosed" (1)
Ehlers-Danlos syndrome type 4 (2)
Ehlers-Danlos Syndrome, Dysautonomia (1)
Ehlers-Danlos syndrome, Hereditary Angioedema (1)
Ehlers-Danlos syndrome, hypermobile type (3)
Ehlers-Danlos syndrome, kyphoscoliotic type (1)
Ehlersdanlos Sindromerome type III, Pots, Orticaria (1)
Ehler’s Danlos, Chiari Malformation, CCI (1)
Elhers Danlos Syndrome (1)
Encefalite Autoimune anti NMDA (1)
Encefalopatia mitocondrial (1)
Encefalopatia mitocondrial sindrome de melas (1)
Encephalocele and Hydrocephalus (1)
Enfermedad mitocondrial (1)
EOE (Eosinophilic Esophagitis) (1)
Eosinophiler Granulomatose mit Poliangiitis (EGPA) (1)
Eosinophilic esophagitis (9)
Eosinophilic fasciitis (1)
Eosinophilic gastroenteritis (5)
Ep22.2 multiple-gene deletionTBL1x GPR143 (1)
Epidermolysis bullosa (1)
Epidermolysis bullosa dystrophica (4)
Epidermolysis Bullosas (1)
Episodic ataxia type 2 (3)
Epispadias (1)
Epithelioid hemangioendothelioma (1)
Erythromelalgia (2)
Erythropoietic protoporphyria (1)
Erythropoietic Protoporphyria (EPP) (1)
Esclerodermia / Esclerose Sistêmica (1)
Esclerosis múltiple (1)
Esophageal atresia (1)
Esophageal Cicatricial Pemphigoid, Bullous pemphigoid (1)
Essential thrombocythemia (2)
Essential thrombocythemia & Myelofibrosis (1)
Evans Syndrome (1)
Ewing’s sarcoma (2)
Exercise induced Upper extremity DVT (1)
Exomphalos Major / Omphalocele (1)
Fabry (1)
Fabry disease (4)
Fabrys Disease (1)
Facial Infiltrating Lipomatosis (1)
Facioscapulohumeral dystrophy (1)
Facioscapulohumeral Muscular Dystrophy (1)
Factor five v laiden, chari malformation and epilepsy (1)
Factor VII Deficiency (3)
FAHR'S SYNDROME (1)
Familial adenomatous polyposis (5)
Familial Adenomatous Polyposis, Short Bowel Syndrome (1)
Familial Chylomicronaemia Syndrome (1)
Familial Cold Autoinflammatory Syndrome (1)
Familial cold autoinflammatory syndrome type 2 (1)
Familial glucocorticoid deficiency (1)
Familial Mediterranean fever (3)
Familial papillary (1)
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Median arcuate ligament syndrome, renal nutcracker syndrome, SMA syndrome (1)
Median arcuate ligament syndrome, superior mesenteric artery compression, widespread chronic pain syndrome, venous insufficiency, nutcracker syndrome, mast cell activation syndrome, may thurner syndrome, thoracic outlet syndrome, ehlers danlos, pots (1)
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Myopathie, keine weitere Bezeichnung, da Weltweit die einzige mit dieser Gen- Zusammensetzung (1)
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Name of disease (dropdown wip) (0)
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Peritoneal Mesothelioma (1)
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Peroxisomal biogenesis disorder - Zellweger spectrum disorder (1)
Peroxisomal disease (zellweger syndrome) (1)
Peroxisome biogenesis disorder (2)
Peroxisome biogenesis disorder spectrum (1)
Persistent Postural Perceptual Dizziness (1)
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Perthes disease (4)
Peters plus syndrome (2)
Pettigrew syndrome (AP1S2 gene disorder)/subcorticol heterotopia/autism (1)
Peutz-Jeghers Syndrome (1)
PHACE syndrome (2)
PHACES syndrome (1)
Phelan-McDermid (1)
Phelan-McDermid syndrome (3)
Phelan-McDermid Syndrome 22q13.3deletion (1)
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Pityriasis rubra pilaris (2)
PKAN (1)
PKAN2 (1)
PKU (9)
Pku (phenylketonuria) (1)
Plasminogen deficiency type 1 (1)
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PNH (5)
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Poland syndrome (2)
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Polymicrogyria with optic nerve hypoplasia, cerebral palsy, epilepsy, scoliosis, heart and lung disease, hypospadias, clubbed feet (1)
Polymyositis (1)
Polymyositis (currently), Guillain-Barré and Miller Fisher overlap syndrome (previously) (1)
Pompe (1)
Pompe Disease (2)
Pompe disease, infantile onset (3)
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Pontine Tegmental Cap Syndrome (1)
Pontocerebellar Hypoplasia (1)
Pontocerebellar hypoplasia / PEHO Syndrome (1)
Pontocerebellar hypoplasia type 1 (1)
Porencephaly, ataxia, Cerebral sinovenous thrombosis w/ parenchymal venous infarction, full term cryptorchidism, & 4p31.3-32.1 microduplication syndrome. (1)
Poretti Boltshauser Syndrome (2)
Porfiria eritropoyetica congenita (1)
Porokeratosis of Mibelli (1)
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Post surgical turbinate injury( ENS) (1)
Post-finasteride syndrome (1)
Post-SSRI Sexual Dysfunction (PSSD) (10)
Potocki-Lupski (1)
POTS, EDS type 3 (1)
PPA2 (3)
PPP2R5D and Schaaf Yang syndrome (1)
PPP2R5D-related intellectual disability (1)
Prader-Willi syndrome (6)
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (1)
Pregnancy-and-Lactation Osteoporosis (1)
Primary Addison’s disease (1)
Primary Adrenal Insufficiency (1)
Primary biliary cholangitis (7)
Primary Billiary Cholangitis, Celiacs Disease, hypereosinophilic syndrome (1)
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Primary ciliary dyskinesia (8)
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Primary immune deficiency Common variable immune deficiency factor v Leiden Bronchiectasis pseudomonas fibromyalgia (1)
Primary immunodeficiency (1)
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Primrose syndrome (1)
Probable Pediatric systemic lupus erythematosus (1)
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Progressive myoclonic epilepsy (2)
Progressive myoclonic epilepsy type 6 (1)
Progressive Osseous Heteroplasia (1)
Progressive Supranuclear Palsy (2)
Progressive supranuclear palsy-parkinsonism syndrome (1)
Proximal 16p11.2 microduplication syndrome (1)
Pseudohypoparathyroidism (1)
Pseudohypoparathyroidism type 1B (1)
Pseudomyxoma peritonei (2)
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Pseudotumor Cerebri / Hipertensión Endocraneana (Hic o. iIH) (1)
Pseudotumor Cerebro (IIH o HIC) (1)
Pseudoxanthoma elasticum (2)
Pseudoxanthoma elssticum (1)
Psoriatic arthritis,Crohn’s disease,fibromyalgia,hyperthyroidism,Graves disease (1)
Psychogenic movement disorders (1)
PTEN (1)
PTEN hamartoma tumor syndrome (4)
PTEN Hamartoma Tumour Syndrome (1)
PTEN Hamartoma Tumour Syndrome (PHTS/PTEN) (1)
Pten harmatoma tumor syndrom (1)
PTEN Mutation (1)
Pudendal Nerve Entrapment (1)
Pudendal Neuralgia / Tarlov Cyst (1)
Pudendal neuralgia; pelvic floor dysfunction (1)
Pulmonary Alveolarproteinosis (1)
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Pulmonary Artery Sarcoma, Fibromuscular Dysplasia (1)
Pulmonary capillary hemangiomatosis (2)
Pulmonary hypertension due to lung disease and/or hypoxia (2)
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Punctate Inner Choroidopathy (1)
Punctate inner choroidopathy (PIC) (1)
Punctate inner choroidopathy with choroidal neovascularization (1)
PURA Syndrome (1)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (1)
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Pure Autonomic Failure, EDS, POTS (1)
Pyoderma gangrenosum (3)
Pyruvate Kinase Deficiency (2)
Q fever (1)
Quebec platelet disorder (1)
Radiation-Induced Lumbosacral Plexopathy (2)
Rare bleeding (1)
Rare genetic disorder called EEF1A2 (1)
Rare gynecological cancer (1)
Recessive Dystrophic Bullous Epidermolysis Bullosa (1)
Reflex sympathetic dystrophy / Complex Regional Pain Syndrome (1)
Reflex Sympathetic Dystrophy (1)
Refractory Anaemia with Ringed Sideroblasts. (1)
Refractory Anemia with Ring Sideroblasts (1)
Relapsing polychondritis (12)
Renal nutcracker syndrome (1)
Retinitis pigmentosa (4)
Retinoblastoma (Childhood Eye Cancer) (1)
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Rett syndrome (5)
Rhizomelic chondrodysplasia punctata (1)
Rhizomelic chondrodysplasia punctata type 2 (3)
RHOBTB2 (1)
RHOBTB2 Genetic mutation syndrome (1)
RHOBTB2 mutation (2)
Riboflavin Transporter Deficiency (1)
Rigid Spine Muscular Dystrophy (1)
RNS (1)
Roberts syndrome (1)
Rocky Mountain Spotted Fever, Alpha-Gal Allergy, & Mast Cell Activation Syndrome (1)
ROHHAD (1)
ROHHAD Syndrome (1)
Rosaï-Dorfman disease (1)
Rpl10 (1)
Rsd, Complex regional pain syndrome (CRPS) (1)
Rubinstein Taybi Syndrome (2)
Runx1 FPD (1)
Russell Silver Syndrome (0)
Sandhoff (1)
Sandhoff disease, infantile form (1)
Sanfilippo syndrome type A (2)
Sanfilippo syndrome type B (1)
Sarcoidosis (10)
Sarcoidosis pulmonar (1)
SATB2-Syndrome (1)
SCA1 (1)
SCAR7 (1)
Schizencephaly (1)
Scleredema of Buschke Type 2 and Stiff Person Syndrome (1)
Scleroderma (10)
Scleroderma Raynaud's and APS (1)
Scleroderma with interstitial lung disease (1)
Scleroderma, primary biliary cholangitis, pulmonary arterial hypertension, chronic thromboembolic pulmonary hypertension (1)
Scleroderma, Progressive Relapsing MS, Lupus (1)
Scleroderma, Rheumatoid Arthritis, Alopecia, Ehlers Danlos Syndrome (1)
Sclerosis Tuberous Complex (1)
SCLS, Systemic capillary leak syndrome (1)
SCN2A (1)
SCN2A GENE (1)
SCN2A GENE MUTATION (1)
SCN8A (1)
Secondary Reynauds-scleroderma (1)
Secuencia de Pierre Robin (1)
Septo-optic dysplasia (3)
Severe Aplastic Anemia (2)
Severe chronic neutropenia and Bone marrow failure (1)
Severe combined immune deficiency (1)
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Severe Hemophilia B (2)
Severe primary trimethylaminuria (5)
Short bowel sindrome K91.2 (1)
Short bowel syndrome (3)
Shwachman diamond syndrome (1)
Sickle cell anemia (2)
Sickle cell disease (2)
Silver-Russell syndrome (1)
Sind de arnold Chiari tipo 1/ hidrosiringomielia e sind de Elhers Danlos (1)
Sindrome de cornelia de lange (1)
Sindrome de crouzon (hidrocefalia, malformaciones craneales) (1)
Sindrome de sudeck (1)
Sindrome di Smith Magenis (1)
SINDROME GENETICO KLHL20 (1)
SINDROME ORO FACIAL DIGITAL TIPO 1 (1)
Sjogren's syndrome, myelitis, vasculitis (1)
Sjögren's syndrome, Systemic Lupus Eythematosus, SJS (1)
Sjögren-Larsson syndrome (1)
SLC1A4 (1)
SLC1A4 Deficiency Syndrome (1)
SLC25A46 (1)
SLC6A1 (4)
SMA type 1 (3)
SMA type 2 (1)
SMA type 3 (1)
SMALED2 (1)
Small Fiber Neuropathy (1)
Small fiber sensory neuropathy (3)
Smith-Kingsmore syndrome (4)
Smith-Magenis Syndrome (1)
Smith-Magenis syndrome (SMS) (1)
SnijdersBlokCampeau Syndroom (1)
Solar urticaria (1)
Sotos syndrome (3)
Spasmotic Tortacolis (1)
Spastic paraparesis type 2 (1)
Spastic quadriplegic cerebral palsy (1)
SPEG related centronuclear myopathy type 5 (1)
SPG5A (1)
Spina Bifida (1)
Spinal muscular atrophy (8)
Spinal Muscular Atrophy (SMA) (1)
Spinal muscular atrophy 3B (1)
Spinal muscular atrophy type 1 (3)
Spinal muscular atrophy type 2 (2)
Spinal Muscular Atrophy type III (1)
Spinal muscular atrophy with respiratory distress type 2 (1)
Spino cerebellar ataxia (1)
Spinocerebellar Ataxia (1)
Spinocerebellar ataxia type 1 (1)
Spinocerebellar ataxia type 2 (1)
Spinocerebellar Ataxia Type 29 (1)
Spinocerebellar Ataxia Type 3 (1)
Spinocerebellar ataxie type 5 (1)
Spondyloepimetaphyseal Dysplasia Strudwick Type (1)
Spondyloepiphyseal dysplasia congenita (1)
Spontaneous Spinal Epidural Hematoma. Von Willebrands Type 1 (1)
Sporadic Cerebellar Degeneration (1)
Sporadic inclusion body myositis (1)
Sporadic Lymphangioleiomyomatosis with Tuberous Sclerosis (1)
Stargardt disease (2)
Statin induced myopathy (1)
Stickler syndrome type 1 (1)
Stiff man syndrome (1)
Stiff Person Syndrome (5)
Stiff person syndrome and related disorders (6)
Stiff Person Syndrome, Autonomic Dysfunction, PoTs, Endometriosis (1)
Stiff Person Syndrome, T1-Diabetes, Hashimoto's Thyroiditis (1)
Stiff-Person-Syndrom (1)
Still Syndrome (1)
Sturge Weber (1)
Sturge-Weber Syndrome (1)
STXBP1 (4)
STXBP1 Encephalopathy (1)
Subacute Sensory Neuronopathy due to small lung cancer (1)
Subglottic stenosis (4)
Superficial Siderosis (4)
Superior mesenteric artery syndrome (2)
Superior Mesenteric Artery Syndrome (SMAS) and others (1)
Superior Mesenteric Artery Syndrome and Nutcracker Syndrome (1)
Superior Semicircular Canal Dehiscence (1)
Surfactant protein c deficiency (1)
SWAN (1)
Swyer-James-Syndrome (1)
Syndrome d'Ondine (1)
Syndrome de Barré-Liéou (1)
Syndrome de Cowden (1)
Syndrome de Pitt Hopkins (1)
Syndrome de Schmidt (1)
Syndrome Néphrotique (1)
Syndrome néphrotique cortico-résistant sévère (1)
Syndrôme du défilé cervico thoraco brachiale (1)
SYNGAP1 (5)
Synthesis disorder, primary bile, mucopolysaccharidosis type VI, etc (0)
Syringomyelia (3)
Syringomyelia/Syringobulbia (1)
Systematic Lupus Erythematosus (1)
Systemic Lupus Erythematosus (2)
Systemic Lupus Erythematosus (SLE) (1)
Systemic Lupus Erythematous (1)
Systemic mastocytosis (4)
Systemic scleroderma (3)
Systemic scleroderma, Systemic sclerosis (1)
Systemic Sclerosis Scleroderma (1)
Síndrome de Bardet-Biedl, transtorno de espectro autista, asma, transtorno de ansiedad entre otros. Enfermedades ya diagnosticadas clínicamente. (1)
Síndrome de Dravet (1)
Síndrome de MELAS (1)
Síndrome de Ogden (1)
Síndrome de Upshaw Shulman, Upshaw-Schulman-Syndrome (1)
Síndrome de Vulto-Van Silfhout de Vries (1)
Síndrome de williams Beuren (2)
Síndrome delecion 6q25 (1)
Síndrome do triplo x (1)
Síndrome EEC (1)
Síndrome klippel trenaunay (1)
Síndrome Muckle Wells (0)
Síndrome Pitt-Hopkins (1)
Síndrome pós poliomielite e Síndrome de Schneider (1)
Takayasu arteritis (1)
Tango2 (2)
Tarlov cyst (7)
Tarsol Coalition (1)
Tatton-Brown Rahman Syndrome (1)
Tay-Sachs (2)
Tay-Sachs disease (1)
Tay-Sachs disease, B variant, infantile form (1)
TBL1XR1 - Related Disorder (1)
Tenosynovial giant cell tumor (1)
Tethered Cord Syndrome (2)
Tetrasomia 9p (1)
Tetrasomy 15q26 (1)
Thalassaemia (1)
Thalassemia (1)
Thiel-Behnke corneal dystrophy (TBCD) genetic disorder (1)
Thoracic outlet compression syndrome (1)
Thoracic outlet syndrome (2)
Thrombotic thrombocytopenic purpura (1)
Thymoma (2)
Tibial hemimelia, unilateral (1)
Timothy Syndrome (1)
Tirosinemia Tipo 1 (1)
TK2D (1)
Tlk2 (1)
TLK2 - tousled like kinase 2 (1)
TMAU (1)
Tracheobronchomalacia, ehlers danlos syndrome (1)
Tracheomalacia/Tracheobronchomalacia (1)
Transient Global Amnesia (1)
Transverse Myelitis, (3)
Transverse Myelitis, clinically isolated syndrome and intercranial hypertension (1)
TRAPS (1)
Treacher-Collins syndrome (1)
Treacher-Collins syndrome and Vulto-van Silfues syndrome (1)
Trevor’s disease (1)
Trichothiodystrophy (3)
Trigeminal neuralgia (7)
Trigeminusneuralgi (1)
TRIM8 related disorder (1)
TRIM8 related disroder (rare genetic) (1)
Trimethylaminuria (2)
Trimetilaminuria (1)
TRIO Gene and cerebral palsy (1)
TRIO Related Intellectual Disability (1)
Triple A syndrome (1)
Trisomy 18 (2)
TTP (2)
TTP (Thrombotic Thrombocytopenia Purpura) (1)
TUBB4-A related leukodystrophy (1)
Tuberous Sclerosis (1)
Tuberous sclerosis complex (6)
Tuberous Sclerosis Complex (TSC) (1)
Tumor induced osteomalacia (1)
Tumor Necrosis Factor Receptor Associated Periodic Syndrome, Long QT Syndrome, Thrombophilia (1)
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (1)
Turner's disease (1)
Twin Anaemia Polycythemia Sequence (1)
Twin Anemia-Polycythemia Sequence (1)
Tyrosinaemia type 1 (1)
Tyrosinemia (1)
Tyrosinemia Type I (1)
UBA5 Disorder (1)
UBA5 Early-Onset Epileptic Encephalopathy (1)
UBE2A Deficiency Syndrome (1)
UIP (1)
Ultra rare genetic mutation in Nek8 (1)
Ultrarare genetic mutation in Nek8 (1)
Undiagnosed (12)
Undiagnosed (possible connective tissue disorder) (1)
Undiagnosed (suspected THAP12 recessive mutations), Epilepsy, Infantile Spasms, Lennox-Gastaut Syndrome, Cortical Visual Impairment, Dysphagia, Hypotonia, Global Developmental Delay (1)
Undiagnosed and rare diseases (1)
Undiagnosed Angioedema (1)
Undiagnosed genetic condition, Guillain Barre Syndrome, Rhabdomyosarcoma (1)
Undiagnosed Mast Cell Activation Syndrome, Undiagnosed Ehlers Danlos Syndrome type III, Idiopathic Urticaria, Conversion Disorder (1)
Undiagnosed rare disease (2)
Undiagnosed, malignant high blood pressure, recurrent respiratory infections, hypotonia, developmental delays, behavior issues, reflux (1)
Undiagnosed, suspected form of auto-immune syndrome (1)
Undifferentiated Connective Tissue Disease aka mild lupus (1)
Undifferentiated Systemic Autoinflammatory Disease, Macrophage activation syndrome (1)
Unilateral Polymicrogyria (1)
Urea Cycle Disorder (Arginase Deficiency) (1)
Urea Cycle Disorder (Ornithine Transcarbamylase (OTC) Deficiency) (1)
Urea Cycle Disorder ASA (1)
Urea cycle disorder- OTC Deficiency (1)
Usher Syndrome (1)
Usp7 gene (1)
USP7 gene mutation (1)
Uveal Melanoma (1)
Uveitis (1)
Vacter disease (1)
VACTERL association (3)
VACTERL syndrome (2)
Vacterl, Tibia Hemimelie, Tethered Cord, Syrinx (1)
Variante de novo patogenetica nel gene ASH1L, che si associa a un disordine del neurosviluppo 52 (MRD52) a trasmissione autosomica dominante (OMIM 617796). (1)
VARS (1)
Vascular Ehlers Danlos Syndrome and Brittle Cornea Syndrome (1)
Vascular Elhers Danlos Syndrome (1)
Vascular Malformations - Right Leg (1)
Vasculitis (4)
Vasculitis, Raynaud's Disease (1)
Vertebrobasilar dolichoectasia (1)
VHL (1)
VHL (Von Hippel Lindau) (1)
Visual snow syndrome (5)
VLCAD deficiency (2)
Vogt-Koyanagi-Harada disease (3)
Von Hippel Lindau Disease (1)
Von Hippel-Lindau syndrome (1)
Von Willebrand Disease (1)
Vulvar Lichen Sclerosus (1)
Vulvar lymphangioma (1)
Waardenburg syndrome (1)
WAGR syndrome (2)
Waldenstrom's Macroglobulinemia (1)
Wegener granulomatosis (1)
Wegener's granulomatosis (2)
WHIM Syndrome (1)
Whistling face syndrome (1)
White-Sutton syndrome (1)
Wiedemann-Steiner syndrome (1)
Williams syndrome (21)
Williams-Beuren syndrome (1)
Wilson disease (3)
Wilson's disease (1)
Witteveen-Kolk Syndrome, Kallmann Syndrome, Congenital Diaphragmatic Hernia (1)
Wolf-Hirschhorn syndrome (3)
Wolman disease (1)
Wwox (1)
X- linked Adrenoleukodystrophy (1)
X-linked hypophosphatemia (XLH) (1)
X-linked hypophosphatemic rickets (1)
X-linked ichthyosis (1)
X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia (MICPCH) (1)
X-linked retinoschisis (1)
Xia Gibbs Syndrome (1)
XLH (1)
XLH - X-linked hypophosphatemia (1)
Yars 1 sehr seltener Gendeffekt im Stoffwechsel (1)
ZC4H2 Deficiency (1)
Zellweger syndrome (2)
Zellweger syndrome, Peroxisomal Biogensis Disorder (1)
arteriovenous malformation (AVM) or klippel trenaunay syndrome (KT Syndrome) (1)
Мышечная дистрофия Дюшенна (1)
Ცენტრო ნუკლიარული მიოპათია, Centronuclear myopathy (1)
“IEM” (Carnitine inborn errors of metabolism) (0)
