List of Important Human Diseases

List of Important Human Diseases

Cancers

Cancers of eye, brain, and central nervous system

  • Retinoblastoma
  •  Glioma
  •  Neuroblastoma
  • Schwannoma
  • Meningioma
  • Medulloblastoma

Cancers of the digestive system

  • Esophageal cancer
  • Gastric cancer
  • Carcinoid
  • Colorectal cancer
  • Cancer of the anal canal
  • Hepatocellular carcinoma
  • Hepatic angiosarcoma
  • Gallbladder cancer
  • Cholangiocarcinoma
  • Pancreatic cancer
  • Gastrotintestinal stromal tumor

Cancers of hematopoietic and lymphoid tissues

  • Acute myeloid leukemia (AML)
  • B lymphoblastic leukemia/lymphoma
  • T lymphoblastic leukemia/lymphoma
  • Chronic myeloid leukemia (CML)
  • Chronic eosinophilic leukemia
  • Hypereosinophilic syndrome
  • Chronic lymphocytic leukemia (CLL)
  • Hodgkin lymphoma
  • Hairy-cell leukemia
  • Mantle cell lymphoma
  • Burkitt lymphoma
  • Adult T-cell leukemia
  • Mycosis fungoides
  • Peripheral T cell lymphoma (PTCL)
  • Anaplastic large-cell lymphoma
  • Langerhans cell histiocytosis
  • Mast cell leukemia
  • Multiple myeloma
  • Lymphoplasmacytic lymphoma
  • Follicular lymphoma
  • Polycythemia vera
  • Essential thrombocytosis
  • Myelofibrosis

Cancers of soft tissues and bone

  • Myxoid liposarcoma
  • Fibrosarcoma
  • Malignant fibrous histiocytoma (MFH)
  • Leiomyosarcoma
  • Alveolar rhabdomyosarcoma
  • Kaposi’s sarcoma
  • Angiosarcoma
  • Chondrosarcoma
  • Synovial sarcoma
  • Epithelioid sarcoma
  • Alveolar soft part sarcoma
  • Clear cell sarcoma of soft tissue
  • Extraskeletal myxoid chondrosarcoma
  •  Desmoplastic small round cell tumour
  • Osteosarcoma
  • Ewing’s sarcoma
  •  Primary peritoneal carcinoma

Skin cancers

  • Basal cell carcinoma
  • Squamous cell carcinoma
  • Malignant melanoma
  • Mycosis fungoides
  • Merkel cell carcinoma

Cancers of the breast and female genital organs

  • Breast cancer
  • Ovarian cancer
  • Fallopian tube cancer
  • Choriocarcinoma
  • Endometrial cancer
  • Cervical cancer
  • Vulvar cancer

Cancers of male genital organs

  • Prostate cancer
  • Testicular cancer
  • Penile cancer

Cancers of the urinary system

  • Renal cell carcinoma
  • Bladder cancer

Cancers of endocrine organs

  • Thyroid cancer
  • Medullary thyroid cancer
  • Parathyroid carcinoma
  • Adrenal carcinoma
  • Malignant paraganglioma
  • Pancreatic neuroendocrine tumor
  • Multiple endocrine neoplasia syndrome (MEN)
  • Head and neck cancers
  • Nasopharyngeal cancer
  • Hypopharyngeal cancer
  • Laryngeal cancer
  • Oral cancer
  • Oropharyngeal cancer
  • Salivary gland cancer
  • Tonsillar cancer

Cancers of the lung and pleura

  • Non-small cell lung cancer
  • Small cell lung cancer
  • Malignant pleural mesothelioma

Immune system diseases

Allergies and autoimmune diseases

  •  Asthma
  • Systemic lupus erythematosus
  • Hashimoto’s thyroiditis
  • Graves’ disease
  • Allograft rejection
  • Graft-versus-host disease
  • Extrinsic allergic alveolitis (EAA)
  • Rheumatoid arthritis
  • Asthma with nasal polyps and aspirin intolerance
  • Syndromic multisystem autoimmune disease
  • Interleukin 1 receptor antagonist deficiency (DIRA)
  • Allergic contact dermatitis
  • Atopic dermatitis
  • Anaphylaxis
  • Allergic rhinitis
  • Eosinophilic gastrointestinal disorder
  • Eosinophilic esophagitis
  • Dermatitis herpetiformis
  • Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS)
  • Primary biliary cirrhosis (PBC)
  • Behcet Disease
  • Castleman disease
  • Systemic sclerosis
  • Lupus nephritis
  • Sjogren’s Syndrome
  • Vogt-Koyanagi-Harada syndrome
  • Adult onset Still’s disease
  • Cutaneous lupus erythematosus
  • Juvenile idiopathic arthritis (JIA)
  • Ankylosing spondylitis
  • Autoimmune hepatitis (AIH)
  • Mixed connective tissue disease
  • Goodpasture syndrome
  • Atopic myelitis

    Primary immunodeficiency

  • Primary immunodeficiency diseases
  • Agammaglobulinemias
  • Hyper IgM syndromes, autosomal recessive type
  • Other humoral immunodeficiencies
  • Common variable immunodeficiency
  • IFN-gamma/IL-12 axis
  • NK cell defects [PATH:hsa04650]
  • T-B+ Severe combined immunodeficiencies
  • T-B- Severe combined immunodeficiencies
  • T+B+ Severe combined immunodeficiencies
  • Combined immunodeficiencies
  • DNA repair defect
  • Ectodermal dysplasia associated immunodeficiency
  • Immunodeficiency without anhidrotic ectodermal dysplasia
  • Defects of toll-like receptor signaling
  • Chemokine receptor defect
  • Chronic granulomatous disease
  • Leukocyte adhesion deficiency
  • Neutropenic disorders
  • Neutropenia, severe congenital 4, autosomal recessive
  • P14 deficiency
  • Other phagocyte defects
  • Classic complement pathway component defects
  • Late complement pathway defects
  • Alternative complement pathway component defects
  • Mannose-binding lectin pathway component defects
  • Complement regulatory protein defects
  • Other well-defined immunodeficiency syndromes
  • Autoimmune lymphoproliferative syndromes
  • Familial hemophagocyic lymphohistiocytosis
  • Osteoporosis, lymphedema,anhydroticectodermal dysplasia with immunodeficiency (OLEDAID)
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
  • Bare lymphocyte syndrome (BLS) type1
  • Bare lymphocyte syndrome (BLS) type2
  • Growth hormone insensitivity with immunodeficiency
  • RIDDLE syndrome
  • T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND)
  • Pyogenic bacterial infections, recurrent, due to MYD88 deficiency
  • Immune thrombocytopenia (ITP)
  • Activated PI3K-delta syndrome (APDS)
  • Wiskott-Aldrich syndrome
  • DiGeorge syndrome

Other immune system diseases

  • Crohn’s disease
  • Ulcerative colitis (UC)
  • Inflammatory bowel disease
  • Blau syndrome
  • Sarcoidosis, early-onset
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome
  • Familial Mediterranean fever
  • Cryopyrin associated periodic syndrome (CAPS)
  • Aicardi-Goutieres Syndrome
  • Familial chilblain lupus
  • Mevalonate kinase deficiency
  • Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
  • Eosinophil peroxidase deficiency [PATH:hsa05310]
  • Chronic Mucocutaneous Candidiasis (CMC)
  • Chronic recurrent multifocal osteomyelitis (CRMO)
  • Carboxypeptidase N deficiency
  • Giant cell arteritis
  • Autoinflammation lipodystrophy and dermatosis syndrome (ALDD)
  • Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID)
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
  • STING-associated basculopathy with onset in infancy (SAVI)
  • Autoinflammation with infantile enterocolitis (AIFEC)
  • Immunoglobulin G4-related disease
  • Eosinophilic sinusitis

Nervous system diseases

Neurodegenerative diseases

  •  Alzheimer’s disease
  • Lewy body dementia
  • Parkinson’s disease
  • Parkinsonian syndrome
  • Amyotrophic lateral sclerosis (ALS)
  • Huntington’s disease
  • Huntington’s disease-like syndrome
  • Dentatorubropallidoluysian atrophy (DRPLA)
  • Spinal and bulbar muscular atrophy (SBMA)
  • Spinocerebellar ataxia (SCA)
  • Machado-Joseph disease
  • Autosomal recessive spinocerebellar ataxias
  • Prion diseases
  • Ataxia telangiectasia
  • Alexander disease
  • Refsum disease
  • Friedreich ataxia
  • Leber optic atrophy
  • Cockayne syndrome
  • Progressive supranuclear palsy
  • Frontotemporal lobar degeneration (FTLD)
  • Canavan disease
  • Charcot-Marie-Tooth disease (CMT)
  • Hereditary sensory and autonomic neuropathy (HSAN)
  • Rett syndrome
  • Spinal muscular atrophy (SMA)
  • Neurodegeneration with brain iron accumulation (NBIA)
  • Infantile progressive bulbar palsy
  • Agenesis of the corpus callosum with peripheral neuropathy (ACCPN)
  • Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG)
  • Perry syndrome
  • Familial amyloidosis
  • Benign hereditary chorea
  • Pontocerebellar hypoplasia
  • Myopathy with lactic acidosis and sideroblastic anaemia (MLASA)
  • Lethal arthrogryposis with anterior horn cell disease
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
  • Aminoacylase 1 deficiency [PATH:hsa00220]
  • Infantile bilateral striatal necrosis (IBSN)
  • Familial dementia
  • Cerebral amyloid angiopathy (CAA)
  • Familial encephalopathy with neuroserpin inclusion bodies (FENIB)
  • Giant axonal neuropathy
  • Neurodegeneration due to cerebral folate transport deficiency
  • Choreoacanthocytosis
  • Guillain-Barre syndrome
  • Subacute myelo-optico-neuropathy (SMON)
  • Multiple system atrophy
  • Spinocerebellar Degeneration
  • Postherpetic neuralgia
  • Subacute sclerosing panencephalitis (SSPE)
  • Fragile X tremor/ataxia syndrome (FXTAS)
  • Neuroferritinopathy
  • Hereditary diffuse leukoencephalopathy with spheroids
  • Brown-Vialetto-Van Laere syndrome

Other nervous and sensory system diseases

  • TRPV4-related peripheral neuropathies
  • Deafness, autosomal dominant
  • Deafness, autosomal recessive
  • Deafness, X-linked
  • Sudden sensorineural hearing loss
  • Bilateral sudden sensorineural hearing loss
  • Delayed endolymphatic hydrops
  • Meniere disease
  • Usher syndrome (US)
  • Retinitis pigmentosa (RP)
  • Macular dystrophy
  • Stargardt disease (STGD)
  • Cone-rod dystrophy (CORD) and cone dystrophy (COD)
  • Vitelliform macular dystrophy
  • Juvenile retinoschisis
  • Occult macular dystrophy (OMD)
  • Central areolar choroidal dystrophy
  • Age-related macular degeneration
  • Macular edema
  • Familial flecked retina syndrome
  • Leber congenital amaurosis (LCR)
  • Keratoconus
  • Sorsby fundus dystrophy
  • Meesmann corneal dystrophy
  • Primary open angle glaucoma
  • Familial exudative vitreoretinopathy (FEVR)
  • Congenital stationary night blindness (CSNB)
  • Dry eye disease
  • Blepharitis
  • Optic neuritis
  • Optic neuropathy
  • Axenfeld-Rieger syndrome (ARS)
  • Duane retraction syndrome
  • Duane-radial ray syndrome
  • Aniridia
  • Congenital primary aphakia
  • Ectopia lentis
  • Aland Island eye disease
  • Sorsby fundus dystrophy
  • Vitreoretinal degeneration
  • Reis-Bucklers corneal dystrophy (RBCD)
  • Thiel-Behnke dystrophies (TBCD)
  • Gelatinous drop-like corneal dystrophy (GDCD)
  • Macular corneal dystrophy (MCD)
  • Granular corneal dystrophies (GCD)
  • Lattice corneal dystrophies (LCD)
  • Fleck corneal dystrophy (FCD)
  • Congenital stromal corneal dystrophy (CSCD)
  • Schnyder corneal dystrophy (SCD)
  • Fuchs corneal dystrophy (FECD)
  • Posterior polymorphous corneal dystrophy (PPCD)
  • Congenital hereditary endothelial dystrophy (CHED)
  • Achromatopsia
  • Bradyopsia
  • Blue cone monochromacy
  • Colorblindness
  • Autosomal dominant optic atrophy (DOA)
  • Late-onset retinal degeneration (L-ORD)
  • Primary congenital glaucoma (PCG)
  • Cataract
  • Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN)
  • Posterior column ataxia with retinitis pigmentosa (PCARP)
  • Syndromic X-linked mental retardation with epilepsy or seizures
  • Shprintzen-Goldberg syndrome
  • Episodicataxias
  • Hyperekplexia
  • Congenital myasthenic syndrome
  • Paroxysmal extreme pain disorder (PEPD)
  • Nav1.7-associated congenital insensitivity to pain (CIP)
  • Familial or sporadic hemiplegic migraine
  • Congenital motor nystagmus (CMN)
  • Febrile seizures
  • Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)
  • Benign familial neonatal and infantile epilepsies
  • Ataxia with ocular apraxia (AOA)
  • Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
  • Idiopathic generalied epilepsies (IGEs)
  • Autosomal dominant temporal lobe epilepsy (ADTLE)
  • Progressive myoclonic epilepsy (PME)
  • Primary dystonia
  • Core neuroacanthocytosis syndromes
  • GLUT1 deficiency syndrome (GLUT1DS)
  • Bjornstad syndrome
  • Wolfram syndrome (WFS)
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
  • Congenital fibrosis of the extraocular muscles (CFEOM)
  • Distal hereditary motor neuropathies (dHMN)
  • Leukoencephalopathy with vanishing white matter
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
  • Leukoencephalopathy with dystonia and motor neuropathy
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
  • Cystic leukoencephalopathy without megalencephaly
  • Stapes ankylosis with broad thumb and toes
  • Hypomelanosis of Ito
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Revesz syndrome
  • Arts syndrome
  • Focal dermal hypoplasia
  • Amish infantile epilepsy syndrome
  • Coenzyme Q10 deficiency
  • Dopamine beta-hydroxylase deficiency
  • Mohr-Tranebjaerg syndrome
  • Alternating hemiplegia of childhood
  • Retinal vasculopathy with cerebral leukodystrophy (RVCL)
  • Choroid plexus papilloma
  • Newfoundland rod-cone dystrophy (NFRCD)
  • Oculo-auricular syndrome
  • Cornea plana congenita
  • Orthostatic intolerance (OI)
  • L1 syndrome
  • Cerebellar ataxia cayman type (ATCAY)
  • Cerebral palsy
  • Epithelial basement membrane corneal dystrophy (EBMD)
  • Peters anomaly
  • Pigmented paravenous chorioretinal atrophy (PPCA)
  • Pituitary adenomas
  • Choroideremia (CHM)
  • Progressive external ophthalmoplegia (PEO)
  • Pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency [PATH:hsa00750]
  • Reticular dysgenesis
  • Hereditary neuralgic amyotrophy (HNA)
  • Ring dermoid of cornea
  • Roussy-Levy syndrome
  • Anterior segment dysgenesis (ASD)
  • Aromatic L-amino acid decarboxylase (AADC) deficiency
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
  • Infantile ascending hereditary spastic paralysis (IAHSP)
  • Sveinsson chorioretinal atrophy (SCRA)
  • Bart-Pumphrey syndrome
  • Jensen syndrome
  • Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
  • Pyridoxine-dependent epilepsy (PDE)
  • Juvenile-onset dystonia
  • Foveal hypoplasia
  • Generalized epilepsy and paroxysmal dyskinesia (GEPD)
  • Autosomal dominant keratitis (ADK)
  • Marinesco-Sjogren syndrome
  • Congenital mirror movements (CMM)
  • Narcolepsy
  • Hereditary neuropathy with liability to pressure palsies (HNPP)
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
  • Bosch-Boonstra optic atrophy syndrome
  • Familial episodic pain syndrome (FEPS)
  • Emery-Dreifuss muscular dystrophy
  • Familial carpal tunnel syndrome
  • Diabetic retinopathy
  • Diabetic neuropathy
  • Early infantile epileptic encephalopathy
  • West syndrome
  • Lennox-Gastaut syndrome
  • Malignant migrating partial seizures in infancy
  • Hemiconvulsion-hemiplegia-epilepsy syndrome
  • Rasmussen encephalitis
  • Idiopathic macular hole
  • Multiple sclerosis
  • Neuromyelitis optica
  • Spondyloocular syndrome (SOS)
  • Hepatic encephalopathy
  • Vogt-Koyanagi-Harada syndrome
  • Landau-Kleffner syndrome
  • Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)
  • Chiari malformation
  • Wernicke encephalopathy
  • Beriberi
  • Autosomal dominant striatal degeneration (ADSD)
  • Familial idiopathic basal ganglia calcification
  • Essential tremor
  • Pellagra
  • Cluster headache
  • Myasthenia gravis
  • Lambert-Eaton myasthenic syndrome (LEMS)
  • Restless legs syndrome
  • Cervical dystonia
  • Alcohol dependence
  • Insomnia
  • Neuropathic pain
  • Major depressive disorder
  • Bipolar disorder
  • Schizophrenia
  • Generalized anxiety disorder
  • Panic disorder
  • Social anxiety disorder
  • Neurosis
  • Eating Disorders
  • Asperger syndrome
  • Neoplastic meningitis
  • Syringomyelia
  • HTLV1-Associated Myelopathy (HAM)
  • Normal pressure hydrocephalus
  • Congenital hydrocephalus
  • Dandy-Walker syndrome
  • Fisher syndrome
  • Subependymal giant cell astrocytoma
  • Galloway-Mowat syndrome
  • PCDH19-related epilepsy syndrome
  • Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV)
  • Dravet syndrome
  • Early myoclonic encephalopathy
  • Epilepsy with myoclonic absence
  • Myoclonic-astatic epilepsy
  • Mesial temporal lobe epilepsy with hippocampal sclerosis
  • Epileptic encephalopathy with continuous spike-waves during slow-wave sleep
  • Acute encephalitis with refractory repetitive partial seizures
  • Congenital pain insensitivity with anhidrosis
  • Congenital suprabulbar paresis
  • Acute encephalopathy with biphasic seizures and late reduced diffusion
  • Bickerstaff brainstem encephalitis
  • Superficial siderosis
  • Dyslexia

Cardiovascular diseases

Cardiac diseases

  • Hypertrophic cardiomyopathy (HCM)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Dilated cardiomyopathy (DCM)
  • Restrictive cardiomyopathy (RCM)
  • Viral myocarditis
  • Left ventricular noncompaction (LVNC)
  • Atrial septal defect
  • Atrioventricular septal defect
  • Tetralogy of Fallot
  • Complete transposition of the great arteries
  • Congenitally corrected transposition of the great arteries
  • Alagille syndrome
  • Congenital supravalvar aortic stenosis
  • Bicuspid aortic valve
  • Char syndrome
  • Barth syndrome (BTHS)
  • Naxos disease and Carvajal syndrome
  • Long QT syndrome
  • Short QT syndrome
  • Brugada syndrome (BRS)
  • Sick sinus syndrome (SSS)
  • Familial idiopathic ventricular fibrillation
  • Atrial fibrillation
  • Conotruncal heart malformations
  • Neutropenia, severe congenital 4, autosomal recessive
  • Catecholaminergic polymorphic ventricular tachycardia
  • Wolff-Parkinson-White (WPW) syndrome
  • Progressive cardiac conduction defect (PCCD)
  • Beriberi
  • Angina pectoris
  • Premature ventricular complexes (PVCs)
  • Myocardial infarction
  • Persistent truncus arteriosus
  • Ebstein anomaly
  • Tricuspid atresia
  • Univentricular Heart
  • Pulmonary atresia with intact ventricular septum
  • Pulmonary atresia with ventricular septal defect

 

Vascular diseases

  • Venous malformations
  • Peripheral arteriovenous malformation
  • RASA1-related disorders
  • Hereditary hemorrhagic telangiectasia (HHT)
  • Cerebral cavernous malformation
  • Infantile hemangioma
  • Infantile hepatic hemangioma
  • Lymphedemas
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy(CADASIL)
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
  • Inherited erythromelalgia (IEM)
  • Loeys-Dietz syndrome (LDS)
  • Familial thoracic aortic aneurysm and dissection (TAAD)
  • Brain small vessel disease with Axenfeld-Rieger anomaly
  • Lymphangioleiomyomatosis (LAM)
  • Lymphangioma
  • Lymphangiomatosis
  • Arterial tortuosity syndrome
  • Neutropenia, severe congenital 4, autosomal recessive
  • Generalized arterial calcification of infancy
  • Hereditary angioedema
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH)
  • Polyarteritis nodosa
  • Calcification of joints and arteries
  • Moyamoya Disease
  • Budd-Chiari syndrome
  • Large-vessel vasculitis (LVV)
  • Giant cell arteritis
  • Eosinophilic granulomatosis with polyangiitis
  • Buerger’s disease
  • Arteriosclerosis obliterans
  • Chronic arterial occlusive disease
  • Patent ductus arteriosus
  • Raynaud syndrome
  • Microscopic polyangiitis
  • Extrahepatic portal vein obstruction (EHPVO)
  • Deep vein thrombosis (DVT)
  • Kawasaki disease
  • Coronary artery disease
  • Klippel-Trenaunay-Weber syndrome
  • Sturge-Weber syndrome
  • Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis

Hematologic diseases

  • Thalassemia
  • ATR-X syndrome
  • Sickle cell anemia
  • Hereditary spherocytosis
  • Hereditary elliptocytosis
  • Hereditary stomatocytosis
  • Hemophilia
  • Prothrombin deficiency
  • Factor V Deficiency
  • Combined deficiency of factors V and VIII
  • Afibrinogenemia
  • Inherited thrombophilia
  • Macrothrombocytopenia
  • Bernard-Soulier syndrome
  • MYH9-related disease
  • Glanzmann thrombasthenia
  • Thrombotic thrombocytopenic purpura
  • Congenital amegakaryocytic thrombocytopenia
  • Pelger-Huet anomaly
  • Methemoglobinemia
  • Congenital polycythemia
  • Diamond-Blackfan anemia
  • Anemia due to disorders of glycolytic enzymes
  • Anemia due to disorders of glutathione metabolism
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia
  • Congenital dyserythropoietic anemias (CDAs)
  • Factor XI deficiency
  • Factor XII deficiency
  • Factor XIII deficiency
  • Revesz syndrome
  • Thrombocytopenia (THC)
  • Sideroblastic anemia
  • Alpha-2-plasmin inhibitor (a2-PI) deficiency
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
  • Combined deficiency of vitamin K-dependent clotting factors (VKCFD)
  • Adult i phenotype [PATH:hsa00601]
  • Paroxysmal nocturnal hemoglobinuria (PNH)
  • Fletcher factor deficiency
  • Pyruvate kinase (PK) deficiency
  • Plasminogen activator inhibitor type 1 (PAI-1) deficiency
  • Hereditary pyropoikilocytosis (HPP)
  • Aplastic anemia (AA)
  • Atransferrinemia
  • Scott syndrome
  • Thiamine-responsive megaloblastic anemia (TRMA)
  • Hypochromic microcytic anemia
  • Plasminogen deficiency
  • Rh-null hemolytic anemia (RHN)
  • Bleeding disorder platelet-type
  • Hereditary folate malabsorption (HFM)
  • Vitamin B12 deficiency anaemia
  • Iron-refractory iron deficiency anemia (IRIDA)
  • Hypercatabolic hypoproteinemia
  • Antithrombin III deficiency
  • Atypical hemolytic uremic syndrome (aHUS)
  • Myelodysplastic syndrome
  • 5q- syndrome
  • Vitamin C deficiency
  • Allergic purpura
  • Autoimmune hemolytic anemia (AIHA)
  • Acquired pure red cell aplasia
  • Disseminated intravascular coagulation (DIC)
  • Antiphospholipid syndrome (APS)
  • Southeast Asian ovalocytosis (SAO)
  • Autoimmune hemorrhaphilia XIII/13
  • Hypertensive diseases
  • Glucocorticoid-remediable aldosteronism (GRA)
  • Apparent mineralocorticoid excess syndrome
  • Liddle syndrome
  • Aldosterone synthase Deficiency
  • Hypertension exacerbated in pregnancy ]
  • Primary pulmonary hypertension (PPH)
  • Pulmonary arterial hypertension (PAH)
  • Chronic thromboembolic pulmonary hypertension
  • Acute heart failure
  • High blood pressure

Respiratory diseases

Lung diseases

  • Birt-Hogg-Dube syndrome
  • Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV)
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
  • Alpha-1-antitrypsin (A1AT) deficiency
  • Pneumothorax
  • Pulmonary alveolar proteinosis (PAP)
  • Pulmonary alveolar microlithiasis (PALM)
  • Idiopathic pulmonary fibrosis
  • Chronic obstructive pulmonary disease (COPD)
  • Idiopathic interstitial pneumonias
  • Primary alveolar hypoventilation syndrome

Tracheobronchial diseases

  • Bronchiectasis with or without elevated sweat chloride
  • Diffuse panbronchiolitis
  • Obesity hypoventilation syndrome
  • Obliterative bronchiolitis

 

Endocrine and metabolic diseases

Diabetes

  • Type II diabetes mellitus
  • Type I diabetes mellitus
  • Maturity onset diabetes of the young (MODY)
  • Permanent neonatal diabetes mellitus (PNDM)
  • Transient neonatal diabetes mellitus (TNDM)
  • Rabson-Mendenhall syndrome
  • Ketosis-prone diabetes mellitus (KPD)
  • Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN)
  • Mitchell-Riley syndrome
  • Diabetic nephropathy
  • Diabetic retinopathy
  • Diabetic neuropathy
  • Hypothalamus and pituitary gland diseases
  • Neurohypophyseal diabetes insipidus (NPDI)
  • Pituitary Dwarfism (PD)
  • Pituitary gigantism
  • Acromegaly
  • Hypogonadotropic hypogonadism
  • Aromatase excess syndrome
  • Precocious puberty
  • Adrenocorticotropic hormone deficiency
  • Isolated follicle-stimulating hormone deficiency (IFSHD)
  • Growth delay due to insulin-like growth factor I resistance
  • Nephrogenic syndrome of inappropriate antidiuresis (NSIAD)
  • Hyperprolactinemia
  • Syndrome of inappropriate secretion of antidiuretic hormone (SIADH)
  • Disorders of antidiuretic hormone (ADH) secretion
  • Isolated TSH deficiency
  • Pituitary TSH hypersecretion
  • Hypopituitarism
  • Glucocorticoid resistance
  • Eating Disorders
  • Abnormal pituitary gonadotropin secretion
  • Excessive secretion of growth hormone

Thyroid gland diseases

  • Congenital nongoitrous hypothyroidism (CHNG)
  • Thyroid dyshormonogenesis
  • Thyroid hormone resistance syndrome
  • Allan-Herndon-Dudley syndrome
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Bamforth-Lazarus syndrome
  • Abnormal thyroid hormone metabolism
  • Congenital hyperthyroidism
  • Hyperthyroidism
  • Subacute thyroiditis

Parathyroid diseases

  • Pseudohypoparathyroidism
  • Primary hyperparathyroidism
  • Secondary hyperparathyroidism
  • Hypoparathyroidism

Adrenal gland diseases

  • Glucocorticoid-remediable aldosteronism (GRA)
  • Primary aldosteronism
  • Pigmented micronodular adrenocortical disease (PPNAD)
  • Addison’s disease
  •  Adrenal hypoplasia congenita
  • Cortisone reductase deficiency (CRD)
  • Corticosteroid-binding globulin (CBG) deficiency
  • Familial glucocorticoid deficiency (FGD)
  • Achalasia-Addisonianism-Alacrima synrrome
  • Cushing’s syndrome

Other endocrine and metabolic disease

  • Zollinger-Ellison Syndrome (ZES)
  • Hyperlipidemia
  • Hutchinson-Gilford progeria syndrome
  • Nestor-Guillermo progeria syndrome

Digestive system diseases

Mouth and dental diseases

  • Hereditary dentine disorders
  • Amelogenesis imperfecta
  • Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT)
  • Tooth agenesis
  • Primary failure of tooth eruption
  • Solitary median maxillary central incisor syndrome
  • White sponge nevus
  • Oligodontia-colorectal cancer syndrome
  • Trismus-pseudocamptodactyly syndrome

Gastrointestinal diseases

  • Peutz-Jeghers syndrome
  • Primary bile acid malabsorption
  • Juvenile polyposis syndrome
  • Hereditary mixed polyposis syndrome
  • Familial adenomatous polyposis
  • Congenital diarrhea
  • X-linked chronic idiopathic intestinal pseudo-obstruction
  • Short bowel syndrome (SBS)
  • Congenital short bowel syndrome (CSBS)
  • Gastroesophageal reflux disease (GERD)
  • Irritable bowel syndrome
  • Peptic ulcer
  • Eosinophilic gastrointestinal disorder
  • Chronic nonspecific multiple ulcers of the small intestine
  • Isolated hypoganglionosis
  • Cronkhite-Canada syndrome
  • Barrett’s esophagus

Liver diseases

  • Polycystic liver disease
  • Polycystic kidney disease
  • Renal-hepatic-pancreatic dysplasia
  • Alagille syndrome
  • Familial cholestasis
  • Congenital bile acid synthesis defect (CBAS)
  • Dorfman-Chanarin syndrome
  • Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome
  • Arthrogryposis, renal dysfunction, and cholestasis
  • Reynolds syndrome
  • Gallbladder disease
  • Hepatic venoocclusive disease with immunodeficiency (VODI)
  • Nonalcoholic fatty liver disease (NAFLD)
  • Primary biliary cirrhosis (PBC)
  • Intrahepatic lithiasis
  • Primary sclerosing cholangitis (PSC)
  • Autoimmune hepatitis (AIH)
  • Idiopathic portal hypertension
  • Extrahepatic portal vein obstruction (EHPVO)
  • Fulminant hepatic failure
  • Biliary atresia

Pancreas diseases

  • Johanson-Blizzard syndrome
  • Renal-hepatic-pancreatic dysplasia
  • Pancreatic agenesis
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
  • Tropical calcific pancreatitis
  • Hereditary pancreatitis
  • Chronic pancreatitis
  • Acute pancreatitis

Urinary system diseases

Kidney diseases

  • Distal renal tubular acidosis (RTA type 1)
  • Proximal renal tubular acidosis (RTA type 2)
  • Combined proximal and distal renal tubular acidosis (RTA type 3)
  • Hyperkalemic distal renal tubular acidosis (RTA type 4)
  • Bartter syndrome
  • Gitelman syndrome
  • Congenital nephrogenic diabetes insipidus (NDI)
  • Nephronophthisis-medullary cystic kidney disease, including
  • Senior-Loken syndrome
  • Uromodulin-associated kidney diseases
  • Polycystic kidney disease
  • Renal-hepatic-pancreatic dysplasia
  • Renal tubular dysgenesis
  • Pierson syndrome
  • Epstein syndrome
  • Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
  • Alport syndrome
  • Benign familial hematuria
  • Nephrotic syndrome
  • Focal segmental glomerulosclerosis
  • Dent disease
  • Urofacial syndrome
  • Birt-Hogg-Dube syndrome
  • Renal agenesis and Renal adysplasia
  • Nephrolithiasis/osteoporosis, hypophosphatemic
  • Nephropathy with pretibial epidermolysis bullosa and deafness
  • Renal hypouricemia (RHUC)
  • Arthrogryposis, renal dysfunction, and cholestasis
  • Vesicoureteral reflux
  • Glomerulopathy with fibronectin deposits (GFND)
  • Hyperglycinuria
  • Diabetic nephropathy
  • Lupus nephritis
  • Interstitial cystitis (IC)
  • IgA nephropathy
  • Renal anemia
  • Rapidly progressive glomerulonephritis (RPGN)
  • Renal angiomyolipoma
  • Membranoproliferative glomerulonephritis
  • Henoch-Schonlein purpura nephritis

Reproductive system diseases

Reproductive system disease

  • 46,XY disorders of sex development (Disorders of gonadal development)
  • 46,XY disorders of sex development (Disorders in androgen synthesis or action)
  • 46,XY disorders of sex development (Other)
  • Robinow syndrome
  • Aarskog syndrome
  • Azoospermia
  • Congenital bilateral absence of vas deferens
  • Hand-foot-genital syndrome
  • 46,XX disorders of sex development
  • 46,XX disorders of sex development
  • 46,XX disorders of sex development (Other)
  • Premature ovarian failure
  • Multiple cutaneous and uterine leiomyomata
  • Ovarian hyperstimulation syndrome (OHSS)
  • Globozoospermia
  • Galactorrhea
  • Endometriosis
  • Uterine leiomyoma
  • Polycystic ovary syndrome
  • Oocyte maturation defect

 

Musculoskeletal diseases

Skeletal diseases

  • FGFR3-related short limb skeletal dysplasias
  • Achondroplasia
  • Thanatophoric dysplasia
  • Type II collagenopathies
  • Type XI collagenopathies
  • The DTDST-related disorders
  • SEMD, Omani type
  • SEMD, Pakistani type
  • SEMD, Matrilin type
  • Spondyloepimetaphyseal dysplasia with joint laxity type (SEMD-JL)
  • Heparan sulfate proteoglycan gene defects
  • Frontometaphyseal dysplasia
  • Atelostogenesis
  • Spondylocarpotarsal synostosis syndrome
  • Ellis-van Creveld syndrome
  • Short rib-polydactyly syndrome
  • Asphyxiating thoracic dystrophy
  • Pseudoachondroplasia (PSACH)
  • Multiple epiphyseal dysplasia (MED)
  • Metaphyseal dysplasias
  • TRPV4-related skeletal dysplasias
  • Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia
  • Schimke immunoosseous dysplasia
  • Progressive pseudorheumatoid dysplasia (PPRD)
  • Spondyloepiphyseal dysplasia, Kimberley type
  • Wolcott-Rallison syndrome
  • Spondyloepiphyseal dysplasia tarda
  • Spondylometaepiphyseal dysplasia, short limb-hand type
  • Achodrogenesis type IA
  • Schneckenbecken dysplasia
  • Trichorhinophalangeal dysplasia
  • Acrocapitofemoral dysplasia
  • Weill-Marchesani syndrome
  • Acromesomelic dysplasia, Maroteaux type
  • Grebe dysplasia
  • DuPan syndrome
  • Acromesomelic dysplasia with genital anomalies
  • Isolated short stature
  • Robinow syndrome
  • Omodysplasia 1
  • Campomelic dysplasia (CD)
  • Stuve-Wiedemann syndrome
  • 3M syndrome
  • Kenny-Caffey syndrome
  • Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)
  • Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
  • Desbuquois syndrome
  • Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
  • HEM skeletal dysplasia
  • Rhizomelic chondrodysplasia punctata
  • Blomstrand syndrome
  • Desmosterolosis
  • Infantile cortical hyperostosis
  • Raine syndrome
  • Osteopetrosis
  • Sclerosing bone dysplasias
  • Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
  • Osteopoikilosis
  • Osteopathia striata with cranial sclerosis
  • Craniometaphyseal dysplasia
  • Progressive diaphyseal dysplasia
  • Oculodentodigital dysplasia
  • Sclerosteosis
  • Trichodentoosseous dysplasia
  • Primary hypertrophic osteoarthropathy (PHO)
  • Diaphyseal dysplasia with anemia (Ghosal)
  • Osteogenesis imperfecta
  • Osteoporosis-pseudoglioma syndrome (OPPG)
  • Bruck syndrome
  • Geroderma osteodysplasticum
  • Eiken dysplasia
  • Paget’s disease of bone
  • Infantile systemic hyalinosis and juvenile hyaline fibromatosis
  • Mandibuloacral dysplasia
  • Torg-Winchester syndrome
  • Hajdu-Cheney syndrome
  • Cherubism
  • Fibrous dysplasia, polyostotic
  • Progressive osseous heteroplasia (POH)
  • Gnathodiaphyseal dysplasia
  • Osteoglophonic dysplasia
  • Fibrodysplasia ossificans progressiva (FOP)
  • Metachondromatosis
  • Cleidocranial dysplasia
  • Craniosynostosis
  • Antley-Bixler syndrome
  • Crouzon syndrome
  • Apert syndrome
  • Pfeiffer syndrome
  • Enlarged parietal foramina/cranium bifidum
  • Oral-facial-digital syndrome 1
  • Currarino syndrome
  • Spondylocostal dysostosis
  • Patella dysplasias
  • Brachydactyly A/B/D/E
  • Brachydactyly C
  • Brachydactyly-syndactyly syndrome
  • Feingold syndrome
  • Hand-foot-genital syndrome
  • Keutel syndrome
  • Brachydacytly-mental retardation syndrome
  • Rubinstein-Taybi syndrome
  • Acheiropodia
  • Cornelia de Lange syndrome (CdLS)
  • Holt-Oram syndrome
  • Duane-radial ray syndrome
  • Roberts syndrome
  • Tetra-amelia
  • Ulnar-mammary syndrome
  • Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome)
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome)
  • Limb-mammary syndrome
  • ADULT syndrome
  • Split-hand/foot malformation (SHFM)
  • Triphalangeal thumb
  • Pallister-Hall Syndrome
  • Synpolydactyly
  • Synpolydactyly 2
  • Townes-Brocks syndrome
  • Acrocallosal syndrome
  • Proximal symphalangism
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia
  • Tarsal-carpal coalition syndrome
  • Spondylo-megaepiphyseal-metaphyseal dysplasia
  • Congenital vertical talus
  • Nasu-Hakola disease
  • Ossification of the posterior longitudinal ligament of spine (OPLL)
  • Osteoarthritis with mild chondrodysplasia
  • Familial osteochondritis dissecans
  • MED12-related disorders
  • X-linked chondrodysplasia punctata
  • Familial articular chondrocalcinosis
  • Fuhrmann syndrome
  • Al-Awadi/Raas-Rothschild syndrome
  • Cenani-Lenz syndactyly syndrome
  • Giant cell tumor of bone
  • Seronegative arthritis (SpA)
  • Gout
  • Legg-Calve-Perthes Disease
  • Avascular necrosis of femoral head
  • 3C syndrome
  • CHOPS syndrome
  • Singleton-Merten syndrome (SMS)
  • Cole-Carpenter syndrome
  • Zimmermann-Laband syndrome (ZLS)
  • Roifman syndrome
  • Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
  • Osteoporosis
  • Ankylosing spondylitis
  • Ossified ligamentum flavum
  • Diffuse idiopathic skeletal hyperostosis
  • Glucocorticoid-induced osteonecrosis
  • Spinal stenosis
  • Hyperostosis corticalis generalisata
  • Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)
  •  Spondylometaphyseal dysplasia, Sedaghatian type (SMDS)
  • Opsismodysplasia
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM)
  • Mandibulofacial dysostosis with microcephaly
  • Burn-McKeown syndrome
  • Cerebrocostomandibular syndrome
  • Diaphanospondylodysostosis
  • Catel-Manzke syndrome
  • Thrombocytopenia-absent radius syndrome
  • Hartsfield syndrome
  • Postaxial polydactyly
  • Metacarpal 4-5 fusion (MF4)
  • Filippi syndrome
  • Multicentric carpotarsal osteolysis syndrome

Muscular diseases

  • Dystroglycanopathy
  • Dystrophinopathies
  • Sarcoglycanopathies
  • Dysferlinopathies
  • Caveolinopathies
  • Myotonic dystrophy (DM)
  • Congenital muscular dystrophies (CMD/MDC)
  • Facioscapulohumeral muscular dystrophy (FSHD)
  • Oculopharyngeal muscular dystrophy (OPMD)
  • Calpainopathy
  • Limb-girdle muscular dystrophy (LGMD)
  • Distal muscular dystrophies
  • Myofibrillar myopathies (MFM)
  • Nonaka distal myopathy (NM)
  • McLeod syndrome
  • Scapuloperoneal myopathy (SPM)
  • Reducing body myopathy (RBM)
  • X-linked myopathy with postural muscle atrophy (XMPMA)
  • Congenital myopathy
  • Nemaline myopathy
  • Central core disease
  • Multi-minicore disease (MmD)
  • Centronuclear myopathy
  • Congenital fiber type disproportion (CFTD)
  • Cap myopathy
  • Myosin storage myopathy (MSM)
  • Non-dystrophic myotonia
  • Myotonia congenita
  • Paramyotonia congenita (PMC)
  • Potassium-aggravated myotonias (PAMs)
  • Periodic paralysis
  • Hyperkalemic periodic paralysis (HyperPP)
  • Hypokalemic periodic paralysis (HypoPP)
  • Thyrotoxic hypokalemic periodic paralysis (TPP)
  • Andersen-Tawil syndrome (ATS)
  • Distal arthrogryposis (DA)
  • Lethal congenital contractural syndrome (LCCS)
  • Arthrogryposis, renal dysfunction, and cholestasis
  • Brody myopathy
  • Lethal arthrogryposis with anterior horn cell disease
  • Fatal infantile cardioencephalomyopathy
  • Inclusion body myopathy 3 (IBM3)
  • Spheroid body myopathy (SBM)
  • Collagen VI myopathy
  • Bethlem myopathy
  • Schwartz-Jampel syndrome
  • Ullrich disease
  • Myosclerosis
  • Inclusion body myositis
  • Polymyositis and dermatomyositis (PM/DM)
  • Polymyalgia rheumatica
  • Fibromyalgia
  • Eosinophilic fasciitis
  • Autophagic vacuolar myopathy
  • Isaacs syndrome

Skin diseases

Skin and soft tissue diseases

  • Lipodystrophy
  • Congenital generalized lipodystrophy (CGL)
  • Familial partial lipodystrophy
  • Acquired generalized lipodystrophy (AGL)
  • Hereditary spastic paraplegia (SPG)
  • Cutis laxa
  • Pseudoxanthoma elasticum
  • Geroderma osteodysplasticum
  • Epidermolysis bullosa
  • Epidermolysis bullosa, simplex
  • Epidermolysis bullosa, hemidesmosomal
  • Epidermolysis bullosa, junctional
  • Epidermolysis bullosa, dysprophic
  • Kindler syndrome
  • Ectodermal dysplasia
  • Incontinentia pigmenti
  • Ectodermal dysplasia associated immunodeficiency (EDA-ID)
  • Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
  • Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome)
  • ADULT syndrome
  • Limb-mammary syndrome
  • Trichodentoosseous dysplasia
  • Ellis-van Creveld syndrome and Weyers acrodental dysostosis
  • Ectodermal dysplasia, hidrotic
  • Ectodermal dysplasia/skin fragility syndrome
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) [PATH:hsa04514]
  • Odontoonychodermal dysplasia
  • Ectodermal dysplasia-syndactyly syndrome (EDSS)
  • Acne inversa
  • Anonychia congenita
  • Pachyonychia congenita
  • Woolly hair
  • Monilethrix
  • Netherton syndrome
  • Pseudofolliculitis barbae
  • Congenital ichthyosis
  • Bullous congenital ichthyosiform erythroderma (BCIE)
  • Ichthyosis bullosa of Siemens
  • Ichthyosis vulgaris
  • X-linked ichthyosis (XLI)
  • Autosomal recessive congenital ichthyosis
  • Harlequin ichthyosis [PATH:hsa02010]
  • Sjogren-Larsson syndrome [PATH:hsa00071]
  • Keratitis-ichthyosis-deafness syndrome
  • Dorfman-Chanarin syndrome [PATH:hsa04923]
  • Ichthyosis hystrix, Curth-Macklin type
  • Ichthyosis with hypotrichosis
  • Naegeli-Franceschetti-Jadassohn syndrome
  • Erythrokeratodermia variabilis
  • Mal de Meleda
  • Haim-Munk syndrome
  • Vohwinkel syndrome
  • Darier disease
  • Epidermolytic palmoplantar keratoderma (EPPK)
  • Non-epidermolytic palmoplantar keratoderma (NEPPK)
  • Striate palmoplantar keratoderma
  • Palmoplantar keratoderma with deafness
  • Keratosis follicularis spinulosa decalvans
  • Acrokeratosis verruciformis [PATH:hsa04020]
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
  • Disseminated superficial actinic porokeratosis (DSAP)
  • Punctate palmoplantar keratoderma (PPKP)
  • Acral peeling skin syndrome
  • Ichthyosis with confetti
  • Ichthyosis follicularis, alopecia, and photophobia syndrome
  • Ichthyosis prematurity syndrome
  • Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome
  • White sponge nevus
  • Transient bullous dermolysis of the newborn
  • Birt-Hogg-Dube syndrome
  • Bjornstad syndrome
  • Poikiloderma with neutropenia
  • Seborrhea-like dermatitis with psoriasiform element
  • Dermatopathia pigmentosa reticularis
  • Multiple cutaneous and uterine leiomyomata
  • Laryngoonychocutaneous syndrome
  • Atrichia with papular lesions
  • Schopf-Schulz-Passarge syndrome
  • Hypotrichosis and recurrent skin vesicles
  • Localized autosomal recessive hypotrichosis
  • Hypotrichosis, congenital, with juvenile macular dystrophy
  • Hypotrichosis simplex of scalp
  • Marie-Unna hereditary hypotrichosis (MUHH)
  • Epidermodysplasia verruciformis
  • Dyschromatosis symmetrica hereditaria
  • Familial progressive hyperpigmentation
  • Hypomelanosis of Ito
  • Skin fragility-woolly hair syndrome
  • Basal cell nevus syndrome
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
  • Macrocephaly, alopecia, cutis laxa, and scoliosis
  • Revesz syndrome
  • Nephropathy with pretibial epidermolysis bullosa and deafness
  • Dowling-Degos disease
  • Pilomatricoma
  • Focal dermal hypoplasia
  • Nevo syndrome
  • Reynolds syndrome
  • Alopecia universalis
  • Stiff skin syndrome (SSS)
  • Lysyl hydroxylase 3 (LH3) deficiency
  • Bart-Pumphrey syndrome
  • Primary localized cutaneous amyloidosis (PLCA)
  • Allergic contact dermatitis
  • Atopic dermatitis
  • Dermatitis herpetiformis
  • Vitiligo
  • Cole disease
  • Brooke-Spiegler syndrome
  • Familial cylindromatosis
  • Multiple familial trichoepithelioma
  • Familial benign chronic pemphigus
  • Erythema nodosum leprosum (ENL)
  • Behcet Disease
  • Systemic sclerosis
  • Localized Scleroderma
  • Sjogren’s Syndrome
  • Congenital symmetric circumferential skin creases
  • Pellagra
  • Cutaneous lupus erythematosus
  • Chilblains
  • Wegener’s granulomatosis
  • Pemphigus
  • Pemphigoid
  • Seborrheic dermatitis
  • Lichen planus
  • Psoriasis
  • Pityriasis rubra pilaris
  • Pityriasis rosea
  • Pustular psoriasis
  • Xanthoma
  • Palmoplantar keratoderma
  • Lichen sclerosus et atrophphicus (LSA)
  • Stevens-Johnson syndrome
  • Erythema multiforme
  • Relapsing polychondritis
  • Uncombable hair syndrome
  • Vibratory urticaria
  • Acquired idiopathic generalized anhidrosis
  • Brittle cornea syndrome
  • Trichomegaly
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis

Congenital disorders of metabolism

Congenital disorders of carbohydrate metabolism

  • Hereditary fructose intolerance
  • Fructose-1,6-bisphosphatase deficiency
  • Pyruvate dehydrogenase complex deficiency
  • Pyruvate carboxylase deficiency
  • Galactosemia
  • Congenital lactase deficiency
  • Glycogen storage disease (GSD)
  • Hepatic glycogen storage disease
  • Muscle glycogen storage disease
  • Congenital sucrase-isomaltase deficiency
  • Primary hyperoxaluria
  • Acute alcohol sensitivity
  • Congenital glucose-galactose malabsorption (GGM)

Congenital disorders of lipid/glycolipid metabolism

  • Neuronal ceroid lipofuscinosis
  • Peroxisomal beta-oxidation enzyme deficiency
  • Adrenoleukodystrophy Sitosterolemia
  • Familial combined hyperlipidemia
  • Cerebrotendinous xanthomatosis
  • Familial hypercholesterolaemia
  • Hyperlipoproteinemia, type I
  • Hyperlipoproteinemia type IIa
  • Hyperlipoproteinemia, type III
  • Hyperlipoproteinemia, type V
  • Hypertriglyceridemia
  • Lecithin:cholesterol acyltransferase deficiency
  • Tangier disease
  • Abetalipoproteinemia
  • Smith-Lemli-Opitz syndrome
  • Sjogren-Larsson syndrome
  • Lysosomal acid lipase deficiency
  • X-linked ichthyosis
  • Congenital adrenal hyperplasia
  • Fabry disease
  • Gaucher disease
  • Krabbe disease
  • Niemann-Pick disease typeA and B
  • Farber lipogranulomatosis
  • Metachromatic leukodystrophy
  • Multiple sulfatase deficiency
  • GM1 gangliosidosis
  • GM2 gangliosidoses
  • Mucolipidosis IV
  • Alpha-N-acetylgalactosaminidase deficiency
  • Mevalonate kinase deficiency
  • Disorders of fatty-acid oxidation
  • Glycerol kinase deficiency (GKD)
  • Hypomyelinating leukodystrophy
  • Lipoid proteinosis
  • Lipoprotein glomerulopathy
  • Chylomicron retention disease (CRD)
  • Hypoalphalipoproteinemia
  • Pentosuria
  • Combined lipase deficiency (CLD)
  • Familial renal glucosuria (FRG)
  • Inherited glycosylphosphatidylinositol (GPI) deficiencies
  • PIGM-congenital disorder of glycosylation (PIGM-CDG)
  • Autosomal recessive mental retardation-42 (MRT42)
  • Multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)
  • CHIME syndrome
  • Hyperphosphatasia with mental retardation syndrome (HPMPS)
  • Transaldolase (TALDO) deficiency
  • Hyperalphalipoproteinemia
  • Acute recurrent myoglobinuria
  • Neutral lipid storage disease with myopathy
  • Systemic primary carnitine deficiency
  • Xanthoma
  • Primary hyperchylomicronemia

Congenital disorders of glycan/glycoprotein metabolism

  • Congenital disorders of glycosylation (CDG) type I
  • Congenital disorders of glycosylation (CDG) type II
  • Mucopolysaccharidosis type I (MPS1)
  • Mucopolysaccharidosis type II (MPS2)
  • Mucopolysaccharidosis type III (MPS3)
  • Mucopolysaccharidosis type IV (MPS4)
  • Mucopolysaccharidosis type VI (MPS6)
  • Mucopolysaccharidosis type VII (MPS7)
  • Mucopolysaccharidosis type IX (MPS9)
  • Mucolipidosis II and III
  • alpha-Mannosidosis
  • beta-Mannosidosis
  • Fucosidosis
  • Sialidosis
  • Galactosialidosis
  • Dystroglycanopathy
  • Sialuria
  • Lowe syndrome
  • Tn syndrome
  • Temtamy preaxial brachydactyly syndrome (TPBS)
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD)

Congenital disorders of amino acid metabolism

  • Phenylketonuria
  • Tyrosinemia
  • Alkaptonuria
  • Hermansky-Pudlak syndrome
  • Oculocutaneous albinism (OCA)
  • Ocular albinism
  • Piebaldism
  • Histidinemia
  • Maple syrup urine disease
  • Isovaleric acidemia
  • 3-methylcrotonylglycinuria
  • Propionic acidemia
  • Methylmalonic aciduria
  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  • Cystinosis
  • Cystathioninuria
  • Homocystinuria
  • Carbamoyl phosphate synthetase I deficiency
  • Citrullinemia
  • Hyperargininemia
  • Glutaric acidemia
  • Hyperlysinemia
  • Ornithine transcarbamylase deficiency
  • Ornithinaemia
  • Hyperprolinemia
  • Nonketotic hyperglycinemia
  • Canavan disease
  • Brunner syndrome
  • 3-Methylglutaconic aciduria (MGCA)
  • Guanidinoacetate methyltransferase (GAMT) deficiency
  • Succinic semialdehyde dehydrogenase (SSADH) deficiency
  • Creatine deficiency syndrome
  • Lysinuric protein intolerance (LPI)
  • Cystinuria
  • Iminoglycinuria
  • Dicarboxylic aminoaciduria
  • 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency
  • Dimethylglycine dehydrogenase deficiency (DMGDHD)
  • Argininosuccinic aciduria (ARGINSA)
  • N-acetylglutamate synthase (NAGS) deficiency
  • 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency
  • Phosphoserine aminotransferase (PSAT) deficiency
  • Alpha-methylacetoacetic aciduria
  • Prolidase deficiency (PD)
  • Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
  • HMG-CoA synthase (HMGCS) deficiency
  • Tietz syndrome
  • D-2-hydroxyglutaric aciduria (D-2-HGA)
  • Urocanase deficiency
  • Sulfite oxidase deficiency
  • Saccharopinuria
  • GABA-transaminase deficiency
  • Formiminotransferase deficiency
  • Isobutyryl-CoA dehydrogenase (IBD) deficiency
  • L-2-hydroxyglutaric aciduria (L2HGA)
  • Malonyl-CoA decarboxylase deficiency
  • Methylcobalamin deficiency type G (cblG)
  • Anemia due to disorders of glutathione metabolism
  • Glucose 6-phosphate dehydrogenase deficiency
  • Asparagine synthetase deficiency
  • Primary hyperammonemic disorders (Urea cycle disorders)
  • Secondary hyperammonemia
  • Hydroxykynureninuria

Congenital disorders of nucleotide metabolism

  • Lesch-Nyhan syndrome
  • Adenine phosphoribosyltransferase deficiency
  • Adenylosuccinate lyase deficiency
  • Xanthinuria
  • Phosphoribosylpyrophosphate synthetase I superactivity
  • Orotic aciduria
  • Dihydropyrimidine dehydrogenase deficiency
  • Dihydropyrimidinase deficiency
  • Beta-ureidopropionase deficiency
  • Thiopurine S-methyltransferase deficiency (TPMT deficiency)
  • AICA-ribosiduria
  • H01135 Ribose 5-phosphate isomerase (RPI) deficiency

Congenital disorders of cofactor/vitamin metabolism

  • Holocarboxylase synthetase deficiency
  • Porphyria
  • Erythropoietic porphyria
  • Hepatic porphyria
  • Hyperbilirubinemia
  • Hypophosphatasia
  • Ataxia with isolated vitamin E deficiency (AVED)
  • Vitamin D-dependent rickets
  • Dihydrofolate reductase (DHFR) deficiency
  • Biotinidase deficiency
  • Thiamine pyrophosphokinase deficiency

Congenital disorders of ion transport and metabolism

  • Cystic fibrosis
  • Menkes disease
  • Wilson disease
  • Acrodermatitis enteropathica
  • Hemochromatosis
  • Pulmonary surfactant metabolism dysfunction
  • Hypophosphatemic rickets
  • Periodic paralysis
  • Hyperkalemic periodic paralysis (HyperPP)
  • Hypokalemic periodic paralysis (HypoPP)
  • Thyrotoxic hypokalemic periodic paralysis (TPP)
  • Andersen-Tawil syndrome (ATS)
  • GLUT1 deficiency syndrome (GLUT1DS)
  • Transcobalamin II deficiency
  •  Hyperchlorhidrosis isolated (HCHLH)
  • Occipital horn syndrome

Congenital disorders of DNA repair systems

  • Defects in RecQ helicases
  • Bloom syndrome
  • Werner syndrome
  • Rothmund-Thomson syndrome
  • Disorders of nucleotide excision repair
  • Xeroderma pigmentosum (XP)
  • Mismatch repair deficiency
  • Li-Fraumeni syndrome
  • RIDDLE syndrome
  • Nijmegen Breakage Syndrome

Lysosomal storage diseases

  • Lysosomal storage diseases
  • Neuronal ceroid lipofuscinosis
  • Fabry disease
  • Mucopolysaccharidosis (MPS)
  • Mucopolysaccharidosis type I (MPS1)
  • Mucopolysaccharidosis type II (MPS2)
  • Mucopolysaccharidosis type III (MPS3)
  • Mucopolysaccharidosis type IV (MPS4)
  • Mucopolysaccharidosis type VI (MPS6)
  • Mucopolysaccharidosis type VII (MPS7)
  • Mucopolysaccharidosis type IX (MPS9)
  • Glycoproteinoses
  • Sialidosis
  • Galactosialidosis
  • alpha-Mannosidosis
  • beta-Mannosidosis
  • Aspartylglucosaminuria
  • Fucosidosis
  • Alpha-N-acetylgalactosaminidase deficiency
  • Defects in the degradation of sulfatide
  • Metachromatic leukodystrophy
  • Krabbe disease
  • Defects in the degradation of sphingomyelin
  • Niemann-Pick disease type A and B
  • Farber lipogranulomatosis
  • Lysosomal cysteine protease deficiencies
  • Papillon-Lefevre syndrome
  • Pycnodysostosis
  • Defects in the degradation of ganglioside
  • GM1 gangliosidosis
  • GM2 gangliosidoses
  • Niemann-Pick disease type C
  • Mucolipidosis II and III
  • Mucolipidosis IV
  • Lysosomal acid lipase deficiency
  • Danon disease
  • Cystinosis
  • Sialuria
  • Acid phosphatase deficiency
  • Combined SAP deficiency

Peroxisomal diseases

  • Peroxisome biogenesis disorder
  • Zellweger syndrome (ZS)
  • Adrenoleukodystrophy, neonatal (NALD)
  • Infantile Refsum disease (IRD)
  • Refsum disease
  • Rhizomelic chondrodysplasia punctata
  • Adrenoleukodystrophy
  • Acatalasia

Mitochondrial diseases

  • Mitochondrial diseases
  • Mitochondrial respiratory chain deficiencies (MRCD)
  • Cytochrome c oxidase (COX) deficiency
  • Combined oxidative phosphorylation deficiency (COXPD)
  • ATP synthase deficiency
  • Mitochondrial DNA depletion syndrome (MDS)
  • Myopathy with lactic acidosis and sideroblastic anaemia (MLASA)
  • MELAS Syndrome
  • Leigh syndrome
  • Kearns-Sayre Syndrome
  • Leber optic atrophy
  • Leber hereditary optic neuropathy and dystonia (LDYT)
  • Mitochondrial phosphate carrier deficiency (MPCD)
  • Methacrylic aciduria
  • Spastic ataxia (SPAX)
  • Mitochondrial trifunctional protein (TFP) deficiency
  • Myoclonic Epilepsy and Ragged-Red Fiber Disease
  • NARP syndrome
  • 3-Hydroxyacyl-CoA dehydrogenase deficiency
  • HMG-CoA synthase (HMGCS) deficiency
  • Infantile liver failure
  • Antithrombin III deficiency
  • Hyperlipoproteinemia type IIa
  • The ataxia neuropathy spectrum (ANS)
  • Alpers syndrome
  • Mitochondrial neurogastrointestinal encephalomyopathy
  • POLG related disorders
  • Multiple mitochondrial dysfunctions syndrome
  • Encephalopathy due to defective mitochondrial and peroxisomal fission

Other congenital disorders of metabolism

  • Alstrom syndrome
  • Bardet-Biedl syndrome
  • Congenital generalized lipodystrophy
  • Waardenburg syndrome (WS)
  • Adiponectin deficiency
  • Enterokinase deficiency
  • Diseases of the tricarboxylic acid cycle
  • CD36 deficiency
  • Sea-blue histiocyte disease
  • Familial tumoral calcinosis (FTC)
  • Poor drug metabolism (PM)
  • Hypomagnesemia
  • Familial hypocalciuric hypercalcemia (FHH1)
  • Hypercalcemia infantile
  • Adult-onset autosomal dominant leukodystrophy (ADLD)
  • Biotin-responsive basal ganglia disease (BBGD)
  • Trimethylaminuria (TMAU)
  • Erythrocyte lactate transporter defect
  • Ethylmalonic encephalopathy (EE)
  • Hypercarotenemia and vitamin A deficiency
  • Familial hyperinsulinemic hypoglycemia (HHF)
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  • Familial hypobetalipoproteinemia (FHBL)

Other congenital disorders

Congenital disorders of development

  • Recurrent hydatidiform moles (RHM)
  • PTEN hamartoma tumor syndrome
  • von Hippel-Lindau syndrome
  • Craniofacial-deafness-hand syndrome
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • Contiguous gene deletion syndrome involving EYA1
  • Frontonasal dysplasia
  •  Holoprosencephaly
  • Primary microcephaly
  • Neuronal migration disorder
  • H00268 Lissencephaly
  • Periventricular nodular heterotopia
  • Polymicrogyria
  • Acrocallosal syndrome
  • Porencephaly
  • Schizencephaly
  • Septo-optic dysplasia
  • Meckel syndrome
  • Spina Bifida
  • Isolated orofacial clefts
  • Cranioectodermal dysplasia
  • Noonan syndrome
  • Cardiofaciocutaneous syndrome
  • Costello syndrome
  • Noonan syndrome and related disorders
  • Joubert syndrome
  • Fragile X Syndrome
  • Aarskog-Scott syndrome
  • Opitz-GBBB syndrome
  • Alagille syndrome
  • Char syndrome
  • CHARGE syndrome
  • Primary ciliary dyskinesia
  • Kabuki syndrome
  • Townes-Brocks syndrome
  • Popliteal pterygium syndrome
  • Acheiropodia
  • Tetra-amelia
  • Heterotaxy
  • Hypoparathyroidism-retardation-dysmorphism syndrome
  • Lacrimo-auriculo-dento-digital syndrome (LADD)
  • Tooth and nail syndrome
  • Aplasia of lacrimal and salivary glands
  • Restrictive dermopathy
  • Birk Barel mental retardation syndrome (BBMRS)
  • Russell-Silver syndrome
  • Beckwith-Wiedemann syndrome
  • Sotos syndrome
  • Weaver syndrome
  • Marfan syndrome
  • Shprintzen-Goldberg syndrome
  • Congenital contractural arachnodactyly
  • MASS phenotype
  • Bifid nose with or without anorectal and renal anomalies
  • Manitoba oculotrichoanal syndrome
  • Fraser syndrome
  • Ehlers-Danlos syndrome (EDS)
  • Leprechaunism
  • Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
  • Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism
  • Branchiooculofacial syndrome
  • ABCD syndrome
  • Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
  • Frontorhiny
  • Klippel-Feil syndrome(KFS)
  • Warburg micro syndrome
  • Martsolf syndrome
  • Hoyeraal-Hreidarsson syndrome
  • Trichothiodystrophy non-photosensitive type 1 (TTDN1)
  • Cocoon syndrome
  • FG syndrome (FGS)
  • Guttmacher syndrome
  • Cousin syndrome
  • Donnai-Barrow syndrome
  • Hirschsprung disease (HD)
  • Cold-induced sweating syndrome (CISS) and Crisponi syndrome (CRISPS)
  • Geleophysic dysplasia
  • Congenital clubfoot
  • Cleft palate with ankyloglossia
  • Warsaw breakage syndrome
  • Tuberous sclerosis complex (TSC)
  • Schinzel-Giedion midface retraction syndrome
  • Growth retardation, developmental delay, coarse facies, and early death
  • Caudal duplication anomaly
  • Goldberg-Shprintzen megacolon syndrome
  • Neutropenia, severe congenital 4, autosomal recessive
  • TARP syndrome
  • Arts syndrome
  • RAPADILINO syndrome
  • CATSHL syndrome
  • Skeletal defects, genital hypoplasia, and mental retardation
  • Endocrine-cerebro-osteodysplasia syndrome
  • Caudal regression syndrome and Sirenomelia
  • Multiple pterygium syndrome
  • Fetal akinesia deformation sequence (FADS)
  • Microcephaly, Amish type
  • Seckel syndrome
  • COACH syndrome
  • Velocardiofacial syndrome
  • C syndrome
  • Jalili syndrome
  • Choanal atresia and lymphedema
  • Renal coloboma syndrome (RCS)
  • Anophthalmia and microphthalmia (A/M)
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
  • Syndactyly
  • Cranio-lenticulo-sutural dysplasia (CLSD)
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy
  • Ocular coloboma
  • STAR syndrome
  • VACTERL/VATER association
  • Trigonocephaly
  • MECP2-related severe neonatal encephalopathy
  • Simpson-Golabi-Behmel syndrome (SGBS)
  • Cowden-like syndrome
  • Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME)
  • GLI3 morphopathies
  • Phelan-McDermid syndrome
  • Congenital diaphragmatic hernia (CDH)
  • Isolated congenital nail clubbing (ICNC)
  • Hereditary gingival fibromatosis (HGF)
  • Focal cortical dysplasia of Taylor
  • Hydrolethalus syndrome
  • Hypoparathyroidism with sensorineural deafness and renal dysplasia
  • Hypoplastic left heart syndrome (HLHS)
  • Lathosterolosis
  • Spermatogenic failure
  • Microtia hearing impairment and cleft palate (MHICP)
  • Mosaic variegated aneuploidy (MVA) syndrome
  • Mulibrey nanism
  • Nance-Horan syndrome
  • Global cerebral hypomyelination
  • Nonsyndromic congenital nail disorder (NDNC)
  • Macrocephaly macrosomia facial dysmorphism syndrome
  • SHORT syndrome
  • Acrofacial dysostosis
  • Rienhoff syndrome
  • Arthrogryposis, mental retardation, and seizures (AMRS)
  • Van Maldergem syndrome (VMLDS/VMS)
  • Ectodermal dysplasia, pure hair-nail type (HNED)
  • Bosley-Salih-Alorainy syndrome and Athabascan brainstem dysgenesis syndrome
  • Nicolaides-Baraitser syndrome
  • Coffin-Siris syndrome
  • Congenital asplenia
  • Polysplenia syndrome
  • Perlman syndrome
  • Adams-Oliver syndrome (AOS)
  • Chiari malformation
  • Patent ductus arteriosus
  • Syringomyelia
  • Congenital hydrocephalus
  • Dandy-Walker syndrome
  • Potter syndrome
  • ATR-X syndrome
  • ZTTK syndrome
  • 4p deletion syndrome
  • Aicardi syndrome
  • You-Hoover-Fong syndrome
  • Young-Simpson syndrome
  • Genitopatellar syndrome (GPS)
  • Blepharophimosis-mental retardation syndrome (BMRS)
  • Klippel-Trenaunay-Weber syndrome
  • Emanuel syndrome
  • Smith-Magenis syndrome
  • 1p36 deletion syndrome
  • Webb-Dattani syndrome
  • Verheij syndrome
  • Kagami-Ogata syndrome
  • Tenorio syndrome
  • Arima syndrome
  • Stromme syndrome
  • Frank-ter Haar syndrome (FTHS)
  • Beukes hip dysplasia (BHD)
  • Carney complex
  • CODAS syndrome
  • Lenz-Majewski syndrome
  • Hemimegalencephaly
  • Marshall-Smith syndrome
  • Moebius syndrome
  • Congenital scoliosis associated with rib anomalies
  • Cloacal exstrophy
  • Persistent cloaca
  • Megacystis microcolon intestinal hypoperistalsis syndrome
  • Al-Raqad syndrome
  • Wiedemann-Steiner syndrome
  • Complex cortical dysplasia with other brain malformations
  • Auriculocondylar syndrome
  • Carpenter syndrome
  • Aplasia cutis congenita
  • Microphthalmia with linear skin defects (MLS) syndrome
  • Ribosomopathies
  • Diamond-Blackfan anemia (DBA)
  • Shwachman-Diamond syndrome (SDS)
  • Dyskeratosis congenita (DC)
  • RMRP related disorders
  • Treacher Collins syndrome
  • Bowen-Conradi syndrome (BCS)
  • Alopecia neurologic defects and endocrinopathy syndrome (ANE syndrome)
  • North American Indian childhood cirrhosis (NAIC)

Others

  • Prader-Willi syndrome (PWS)
  • Angelman syndrome (AS)
  • Non-syndromic X-linked mental retardation
  • Syndromic X-linked mental retardation
  • Coffin-Lowry syndrome (CLS)
  • Snyder-Robinson syndrome
  • Woodhouse-Sakati syndrome
  • Familial advanced sleep phase syndrome
  • Delayed sleep phase syndrome
  • Chromosme 5p deletion syndrome
  • Nonsyndromic autosomal recessive mental retardation (NS-ARMR)
  • Non-syndromic autosomal dominant mental retardation
  • Pitt-Hopkins syndrome
  • Speech-language disorder 1 (SPCH1)
  • Kleefstra syndrome
  • Mowat-Wilson syndrome
  • Congenital central hypoventilation syndrome (CCHS)
  • Goldberg-Shprintzen megacolon syndrome
  • Cohen syndrome
  • Familial skewed X-chromosome inactivation
  • Rhabdoid predisposition syndrome (RPS)
  • FRA12A mental retardation
  • Neurofibromatosis type 1
  • Neurofibromatosis type 2
  • Williams-Beuren syndrome
  • Tourette syndrome
  • Attention deficit hyperactivity disorder (ADHD)
  • Obsessive-Compulsive and Related Disorder (OCRD)
  • Obsessive-compulsive disorder (OCD)
  • Hoarding disorder
  • Trichotillomania
  • Excoriation disorder
  • Body Dysmorphic Disorder
  • POEMS syndrome
  • Congenital short bowel syndrome (CSBS)
  • 22q11.2 deletion syndrome
  • Down syndrome
  • Patau syndrome
  • Edwards syndrome
  • Verheij syndrome
  • Ring chromosome 20 syndrome
  • Chromosome 15q24 microdeletion syndrome
  • Chromosome 15q13.3 microdeletion syndrome