- Select Disease -
Rigid Spine Muscular Dystrophy (RSMD) (1)
10p Deletion Syndrome (1)
12p13.32 deletion (1)
16q24.3 microdeletion syndrome (2)
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)
2p25.3 Deletion & 10q26.1 Duplication (1)
4H Leukodystrophy (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 cardia (3)
Achondroplasia (1)
Acrodermatitis enteropathica (1)
Acromegaly (5)
Acute disseminated encephalomyelitis (1)
Acute Flaccid Myelitis (1)
Acute intermittent porphyria (3)
Acute Lymphoblastic Leukaemia (1)
Acute Necrotizing Encephalopathy (1)
Acute necrotizing encephalopathy of childhood (1)
ADCA, Autosomal dominant cerebellar ataxia (1)
Addison disease (2)
Addison's Disease (5)
Addison's Disease (Primary Adrenal Insufficiency) (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)
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)
Aggressive fibromatosis (1)
Aicardi syndrome (2)
Aicardi-Goutières syndrome (2)
AL Amyloidosis (3)
Alagille syndrome (3)
Alexander disease (2)
Alexander’s Disease/Severe Congenital Factor VII Deficiency (1)
Alkaptonuria (4)
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 (1)
Alstrom Syndrome (1)
Alternating hemiplegia of childhood (2)
Ameloblastoma (1)
Amyliodosis Al (1)
Amylodosis (1)
Amyloidosis (1)
Amyloidosis FMF, (1)
Amyotrophic lateral sclerosis (1)
Amyotrophic lateral sclerosis (ALS) (1)
ANCA Associated with Vasculitis, PGA, Anti-neutrophil cytoplasmic antibody-associated vasculitis (1)
ANCA Vasculitis (1)
ANCA-associated vasculitis / GBM (1)
ANE (1)
Aneuploidia variabile mosaico (1)
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)
Anti phospholipid antibody syndrome (APS), chronic immune thrombocytopenia (1)
Antiphospholip Sindrom (1)
Antiphospholipid (1)
Antiphospholipid syndrome (1)
Antiphospholipid Syndrome, Thrombocytopenia (1)
Aplastic anemia (1)
APS type 1, APECED (1)
Arachnoid Cyst and undiagnosed problems (1)
Arachnoiditis (3)
Arcodysostosis (1)
Argininemia (1)
ARID1B/Coffin Siris Syndrome and Lennox Gastaut Syndrome (1)
Aromatic L-Amino Acid Decarboxylase Deficiency (1)
Arteritis (1)
Arthogryposis Multiplex Congenita (1)
Arthrogryposis multiplex congenita (1)
Arthrogryposis syndrome (1)
ARVC (1)
Aspergillosis (1)
Ataxia (2)
Ataxia de Friedreich (1)
Ataxia de Friedrich (3)
Ataxia neuropathy spectrum (1)
Ataxia with occulomotor apraxia (1)
Ataxia-telangiectasia (2)
Atresia ani (1)
ATROFIA MUSCULAR ESPINAL (1)
Atrofia muscular espinal tipo 1 (1)
Atrofia Muscular espinhal tipo 2 (1)
Attenuated familial adenomatous polyposis (1)
Attenuated familial adenomatous polyposis (AFAP) (2)
Atypical hemolytic uremic syndrome (aHUS) (1)
Atypical hemolytic-uremic syndrome with anti-factor H antibodies (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 spastic ataxia of Charlevoix-Saguenay (1)
Avascular necrosis (3)
Axenfeld-rieger syndrome PITX2 and macrocephaly (1)
Bainbridge Ropers Syndrome (1)
Bannayan-Riley-Ruvalcaba syndrome (1)
Bardet Biedl Syndrome (1)
Barth Syndrome (1)
Bartter syndrome (2)
Bartter syndrome type 2 (1)
Bartter syndrome type 3 (1)
Batten Disease (1)
BBS (1)
Bechet , myasthenia gravis.hashimoto. (1)
Becker Muscular Dystrophy (2)
Beckwith wiedemann (1)
Beckwith Wiedemann Syndrome (1)
Behcet's (1)
BEHCET's, MYASTHENIA GRAVIS, HASHIMOTO, MAST CELL DISSORDER (1)
Behcet’s Disease, Sjögren’s Syndrome, Selective IgA Deficiency (1)
Behçet disease (11)
Behçet disease and Addisons Disease (1)
Behçet's Disease (2)
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)
Blepharospasm-oromandibular dystonia syndrome (1)
Bohring-Opitz syndrome (1)
BPAN, an NBIA Disorder (1)
Brain Basilar & Vertebrobasilar Mega-Dolicho-Ectasia (1)
Brain haemorrhage, hydrocephalus, epilepsy, cerebral palsy, severe developmental delays, cortical vision impairment, (1)
Brain-lung-thyroid syndrome, interstitial lung disease, Nkx2.1 (1)
Branchio-oto renal syndrome (1)
Branchio-oto-renal Sydrome (1)
Bronchiolitis Obliterans (1)
Brooke-Spiegler syndrome (1)
Brown syndrome (1)
Brucellosis (1)
Brugada Syndrome (1)
Börjeson-Forssman-Lehman Syndrome (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 (1)
Canavan disease (1)
CANVAS (1)
Carcinoid syndrome (1)
Carnitine palmitoyl transferase deficiency type 2, neonatal form (1)
Caroli disease (2)
CASK Gene mutation (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 lymphangioma (1)
CCHS (1)
Cd4+ tcell lymphoroliterative lymphoma (1)
CDG (1)
CDKL5 (1)
CDKL5 Deficiency Disorder (1)
Center Nerve Pain Stroke (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)
CFC Syndrome (1)
Champ 1 Gene Mutation (1)
CHAMP1 (2)
CHAMP1 gene mutation (1)
Champ1 mutation (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 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 (1)
Cholesteryl ester storage disease (1)
CHOPS syndrome (1)
Choroiditis (1)
Christianson syndrome (2)
Chromosome 14 and 21 duplication (1)
Chronic Clusterheadache and Chronic paroxysmal hemicrania (1)
Chronic hiccup (1)
Chronic Idiopathic Thrombocytopenic Purpura (1)
Chronic inflammatory demyelinating polyneuropathy (4)
Chronic intestinal failure, Short bowel syndrome. (1)
Chronic intestinal pseudobstruction (CIPO) (1)
Chronic intestinal pseudoobstruction (1)
Chronic myeloid leukemia (3)
Chronic pneumonia, chronic anemia, Lupus (1)
Chronic Q fever (1)
Chronic recurrent multifocal osteomyelitis (2)
Chronic thromboembolic pulmonary hypertension (1)
Chylomicron retention disease (1)
CIDP (2)
CITOPATIA MITOCONDRIAL ASOCIADO A MTCO3 (1)
Clediocrainial dysplasia (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)
CMM (1)
CMT (1)
CMT4J (1)
CNL 8 (1)
Coats Disease (1)
Cockayne Syndrome (1)
Coffin Siris Syndrome (1)
Cohen Syndrome (1)
Cold Urticaria (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 immunodeficiency (4)
Common variable immunodeficiency (CVID) (1)
Common variable immunodeficiency, epilepsy, calcium deposits on brain, decreased white matter, rheumatoid idiopathic arthritis, von willebrand disease (1)
Complex hereditary spastic paraplegia (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)
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 (1)
Congenital diaphragmatic hernia (2)
Congenital factor V deficiency (1)
Congenital Glaucoma (1)
Congenital Melanocytic Naevi (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)
Connectivity and LES, Lupus (1)
CoPAN disease (1)
Corneal Neuralgia (1)
Cornelia de Lange syndrome (1)
Corticobasal Degeneration (1)
Costello Syndrome (1)
Cowden syndrome (2)
Creatine transporter deficiency (1)
Creatine Transporter Deficiency Syndrome (1)
CREST syndrome (2)
Creutzfeldt-Jakob Disease (1)
Cri du chat syndrome (1)
Crigler-Najjar syndrome (3)
Crouzon disease (2)
CRPS (3)
Cryoglobulinemia ,Vulvar Cancer , G6PDD (1)
Cryoglobulinemic vasculitis (1)
Cryopyrin-associated periodic syndrome (1)
CTNNB1 Syndrome (2)
Cushing disease (3)
Cushing's Disease (1)
Cutis Marmorata Telangiectatica Congenita (2)
CVID (7)
CYLD Cutaneous Syndrome (1)
Cystic Angiomatosis (3)
Cystic fibrosis (8)
Cystic fibrosis, CF related diabetes, CF related arthritis, Celiac disease, Thalassemia Minor (1)
Cystic hygroma (1)
Cystinosis (3)
Cystinuria (1)
Dandy-Walker Syndrome (1)
Dcsi (1)
DDX3X (2)
DDX3X mutation 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)
Dercum disease (1)
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 (5)
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)
Distrofia muscular duchene (1)
Distrofia Neuroaxonal Infantil (INAD) (1)
Disturbo biogenesi perossisomi (1)
DMD (1)
DMJ (1)
Doença de POMPE (1)
Donnai-Barrow syndrome (2)
Dopa-responsive dystonia (DRD) (1)
DREPANOCYTOSE (1)
DRESS syndrome (1)
DTDS (SLC6A3) (1)
Duane Syndrome (1)
Duchenne muscular dystrophy (11)
Duchenne Muscular dzstrophz (1)
Duplication gene 15q (1)
DYRK1A Syndrome (1)
DYRK1A-related intellectual disability syndrome (1)
Dysgerminoma (1)
Dystonia-plus syndrome (1)
Dystrophic Epidermolysis Bullosa (2)
Eagle Syndrome (2)
Eastern equine encephalitis (1)
ECHS1 Deficiency - Mitochondrial Disease (1)
ECHS1-D (1)
EDS, Scheuermanns, BlueRubber Bleb Syndrome (1)
EEC syndrome (1)
EGPA (1)
EGPA, Congenital myasthenic syndrome (1)
Ehlers danlos syndrome (kEds) (1)
Ehlers danlos syndrome, fibromyalgia, Psoratic arthritis (1)
Ehlers Danlos Syndrome, MCAS (1)
Ehlers Danlos tipo vascular (1)
Ehlers Danlos, Primary Immunodeficiency, Mast Cell Activation Syndrome, Hemaphagocytosis, Dysautonomia (1)
Ehlers Danlos, vascular type (1)
Ehlers-Danlos Sindrome (1)
Ehlers-Danlos syndrome (22)
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, 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)
Encefalopatia mitocondrial (1)
Encefalopatia mitocondrial sindrome de melas (1)
Encephalocele and Hydrocephalus (1)
EOE (Eosinophilic Esophagitis) (1)
Eosinophiler Granulomatose mit Poliangiitis (EGPA) (1)
Eosinophilic esophagitis (9)
Eosinophilic fasciitis (1)
Eosinophilic gastroenteritis (4)
Epidermolysis bullosa dystrophica (4)
Epidermolysis Bullosas (1)
Episodic ataxia type 2 (2)
Epispadias (1)
Epithelioid hemangioendothelioma (1)
Erythropoietic protoporphyria (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 disease (2)
Fabrys Disease (1)
Facial Infiltrating Lipomatosis (1)
Facioscapulohumeral dystrophy (1)
Facioscapulohumeral Muscular Dystrophy (1)
Factor five v laiden, chari malformation and epilepsy (1)
FAHR'S SYNDROME (1)
Familial adenomatous polyposis (4)
Familial Chylomicronaemia Syndrome (1)
Familial cold autoinflammatory syndrome type 2 (1)
Familial glucocorticoid deficiency (1)
Familial Mediterranean fever (2)
Familial papillary (1)
Familial partial lipodystrophy, Dunnigan type (1)
Fanconi anemia (1)
FCAS2 (1)
Feingold syndrome (1)
Female symptomatisk dystrofinopaty (1)
FG syndrome type 1 (3)
Fibrodysplasia ossificans progressiva (6)
Fibrodysplasia ossificans progressiva (FOP) (1)
Fibrolamellar hepatocellular carcinoma (1)
Fibromuscular dysplasia (1)
Fibrosing mediastinitis (1)
Fibrous Dysplasia (4)
FMD fibromuscular dysplasia (1)
FMF (Familial Mediterranean Fever),AA-Amyloidose,u.a. (1)
FMF(FAMILIAL MEDITERRANEA FEVER) AA-AMYLOIDOSE, U.a. (1)
FOSMN syndrome (2)
FOXP1 Syndrome (1)
FPIES and Spontaneous hyperthermia (1)
Fraser Syndrom (1)
Friedreich ataxia (3)
Friedreich's Ataxia, Autoimmune Hepatitis, Desmoid Tumors (1)
Friedrich's ataxia (1)
From Spain "The voice of young people. (1)
FSHD (2)
GA1 (1)
Galactosemia (3)
Galactosemia Classica (1)
Galactosemia type 1 (2)
Gardner syndrome (1)
Gastrointestinal Stromal tumor and (1)
Gastroparesis (3)
Gastroschisis (1)
Gata 2 deficiency (1)
Gaucher (1)
Gaucher Disease (1)
Gauchers type 3 (1)
GBS (1)
GBS- Guillain-Barré syndrome (1)
Geleophysic dysplasia (1)
Generalised Myasthenia Gravis (1)
Generalized Pustular Psoriasis (1)
Giant cell hepatitis. Interstitial lung disease. Autoimmune haemolytic anaemia. (1)
Giant cell tumor of bone (1)
Giant Cell Tumour (1)
Gigantomastia (1)
Gitelman Syndrome (1)
Glanzmann's Thrombasthenia (1)
Glutaric Acidemia (1)
Glutaric Acidemia type II (1)
Glutaric aciduria type one (1)
Glycogen storage disease (2)
Glycogen storage disease type 1a (1)
Glycogen storage disease type 1b (1)
Glycogen storage disease type 9b (1)
GM1 Gangliosidosis (1)
GM3 Synthase Deficiency (1)
GNB1 (3)
GNE myopathy (4)
Goldberg-Shprintzen megacolon syndrome (2)
Gorham-Stout disease (1)
GPA (2)
Granulomatosis with polyangiitis (2)
Granulomatosis with Polyangitis (1)
Greig syndrome (1)
Grey Matter Heterotopia, Cervical ribs, unfused posterior arch of C-1 pituitary stalk lesions (1)
Guillain-Barré syndrome (12)
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form (1)
Guillian Barre Syndrome/ CIDP/ Sjogren's Syndrome/Systemic Lupus Erythematosus (1)
H-EDS (1)
Hao-Fountain (1)
HATTR Hereditary Amyloidosis (1)
HEDS (2)
Hemangioendotelioma Epitelioide Hepático (1)
Hemicrania continua (1)
Hemochromatosis due to defect in ferroportin (1)
Hemofilia (1)
Hemonoglubinuria paroxística nocturna (2)
Hemophilia (2)
Hemophilia A (1)
Henoch Schönlein Purpura (1)
Henoch-Schonlein purpura vasculitis (1)
Hereditary alpha tryptasemia (1)
Hereditary amyloidosis (1)
Hereditary Angioedema (1)
Hereditary angioedema type 3 (3)
Hereditary fructose intolerance (2)
Hereditary pulmonary arterial hypertension (1)
Hereditary spastic paraparesis (1)
Hereditary spastic paraplegia (5)
Hereditary Spastic Paraplegia (SPG7) (1)
Hereditary Spastic Paraplegia Type 56 (SPG56) (1)
Hereditary spastic paraplegia, MAP2 Variant (1)
Herniation of the subarachnoid csf space with consequent partial empty sella, csf hypertension, csf leak, superior semicircular canal dehiscience right ear, vestibular loss (1)
HHT, Hereditary hemorrhagic telangiectasia (1)
Hidradenitis Supprativa (1)
HIDS (1)
Hirschprungs disease (1)
Hirschsprung disease (11)
Hirschsprung's disease (2)
HIVEP2 (1)
HIVEP2 disorder (1)
HNPP (1)
HNRNPH2 (1)
Hodgkin’s lymphoma (1)
Hollow visceral myopathy / Chronic intestinal pseudo obstruction/ ACTG2 gene mutation (1)
Holt-Oram syndrome (1)
Home (1)
Homocystinuria due to cystathionine beta-synthase deficiency (1)
HSAN IV (1)
HSAN1E (1)
Huntington Chorea (1)
Huntington disease (4)
Hydrocephaly-cerebellar agenesis syndrome (1)
Hyper-IgD Syndrome (HIDS) (1)
Hyperekplexia (1)
Hypereosonophilic Syndrome (HES) (1)
Hyperphenylanemia due to DNAJC12 Deficiency (1)
Hypertrophic Cardiomyopathy (1)
Hypocalcemic (1)
Hypogammagloblanemia (1)
Hypogammaglobulinemia (1)
Hypogonadotropic hypogonadism associated with other endocrinopathies (1)
Hypohidrotic Ectodermal Dysplasia (HED) (1)
Hypoparathyroid (1)
Hypoparathyroidism (6)
Hypophosphatasia (1)
Hypopituitarism, Growth Hormone Deficiency and Pituitary Macroadenoma ( Large Mass) (1)
Hypoplasie ponto-cérébelleuse (mutation gène CASK) (1)
Hypotonia-speech impairment-severe cognitive delay syndrome (1)
Ichthyosis (3)
Idiopathic Angioedema (1)
Idiopathic CD4 lymphocytopenia (1)
Idiopathic granulomatous lobular mastitis (1)
Idiopathic intracranial hypertension (14)
Idiopathic ketotic hypoglycemia (1)
Idiopathic Late Stage Dumping Syndrome (1)
Idiopathic NBIA Disorder, Neurodegeneration with brain iron accumulation (1)
Idiopathic pulmonary arterial hypertension (1)
Idiopathic pulmonary fibrosis (2)
Idiopathic pulmonary hemosiderosis (2)
Idiopathic Subglottic Stenosis (8)
Idiopathic syringomyelia (1)
Idiopatic multicenter castleman disease (1)
IgG4-related disease (2)
IgG4-related pancreatitis (1)
IIH (1)
Immune thrombocytopenia (ITP) (1)
Imperforate Anus (1)
Incontinentia pigmenti (1)
Incontinentia Pigmenti (IP) (1)
Infantile dystonia-parkinsonism (1)
Infantile inset ascending hereditary spastic paraplegia (1)
Infantile Neuro Axonal Dystrophy (1)
Infantile neuroaxonal dystrophy (3)
Infantile Spasms (IS) and Focal Epilepsy due to NPRL3 microdeletion (1)
Interstitial cystitis (2)
Interstitial cystitis/painful bladder syndrome (2)
Interstitial lung disease (1)
Interstitial lung disease specific to childhood (2)
Inthrahepatic cholestasis of pregnancy (1)
Intrahepatic cholestasis of pregnancy (12)
Intrahepatic cholestasis of pregnancy - ICP (1)
Intralobar congenital pulmonary sequestration (1)
Isaac syndrome (3)
Isolated Klippel-Feil syndrome (1)
Isovaleric acidemia (1)
ITP (1)
ITP, Immune thrombocytopenic purpura (1)
Jacobsen syndrome (1)
Jejunal atresia (1)
Jeune syndrome (1)
Juvenile Batten Disease, Batten Disease (1)
Juvenile Dermatomyositis (1)
Juvenile dermatomyositis, JDM (1)
Juvenile Huntington's (1)
Juvenile Polymyositis (1)
Juvenile Spondyloarthropathy Arthritis, Amplified Musculoskeletal Pain Syndrome (1)
Juvenile Xanthogranuloma (1)
Kallmann syndrome (4)
Kat6a (1)
KBG syndrome (2)
KCNQ2-related epileptic encephalopathy (1)
Kcnt1 (1)
Keratinization of lid margin and Severe Photophobia (1)
KIDINS220 Mutation / SINO Syndrome (1)
Kienbock's disease (1)
Kleefstra syndrome (5)
Kleefstra syndrome due to 9q34 microdeletion (1)
Kleine-Levin syndrome (1)
Klippel feil syndrome (1)
Klippel-Feil malformation (1)
Klippel-Feil syndrome, Holoprosencephaly, pulmonary fibrosis (1)
Klippel-Trénaunay-Weber syndrome (2)
Klipple Feil Syndrom, Sprengal’s Deformity (1)
Koolen-De Vries syndrome (1)
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Undiagnosed (11)
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Мышечная дистрофия Дюшенна (1)
