List of Important Human Diseases

List of huaman 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 haematopoietic 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

    desease

  • 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 [PATH:hsa04010]

  • Hereditary hemorrhagic telangiectasia (HHT) [PATH:hsa04350]

  • Cerebral cavernous malformation

  • Infantile hemangioma [PATH:hsa04370]

  • 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 [PATH:hsa04978]

  • 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