A Phenotypic Series is a tabular view of genetic heterogeneity of similar phenotypes across the genome. https://www.omim.org/help/agreement OMIM Phenotypic Series PyOBO v0.12.13-dev-207b46e9 on 2025-10-31T14:53:03.683090 by https://github.com/biopragmatics/pyobo/blob/main/src/pyobo/sources/omim_ps.py 2025-10-30 https://www.omim.org/phenotypicSeriesTitles/all https://www.omim.org/static/omim/icons/OMIM_davinciman.001.png Aortic aneurysm, familial abdominal Adams-Oliver syndrome Acrodysostosis Pituitary adenoma Restless legs syndrome Hyperaldosteronism Alternating hemiplegia of childhood Amelogenesis imperfecta Amyloidosis, hereditary systemic Amyloidosis, primary localized cutaneous Amyotrophic lateral sclerosis Frontotemporal dementia and/or amyotrophic lateral sclerosis Diamond-Blackfan anemia Aneurysm, intracranial berry Angioedema, hereditary Aniridia Spondyloarthropathy, susceptibility to Tooth agenesis, selective Anterior segment dysgenesis Townes-Brocks syndrome Arrhythmogenic right ventricular dysplasia Arthrogryposis, distal Stickler syndrome Spastic ataxia Atelosteogenesis Atrial septal defect Basal cell nevus syndrome Biliary cirrhosis, primary Aortic valve disease Cole-Carpenter syndrome Branchiootorenal syndrome Breasts and/or nipples, aplasia or hypoplasia of Epidermolytic hyperkeratosis Progressive familial heart block Familial candidiasis Cardiofaciocutaneous syndrome Dilated cardiomyopathy Familial restrictive cardiomyopathy Carpal tunnel syndrome Cataract Cerebral cavernous malformations Myopathy, congenital Klippel-Feil syndrome Charcot-Marie-Tooth disease Alagille syndrome Orofacial cleft Blepharocheilodontic syndrome Familial cold autoinflammatory syndrome Colorectal cancer, hereditary nonpolyposis Cone-rod dystrophy/Cone dystrophy Seizures, benign familial neonatal Seizures, familial febrile Cornea plana Corneal dystrophy, posterior polymorphous Corneal dystrophy, Meesmann Cornelia de Lange syndrome Craniometaphyseal dysplasia Craniosynostosis Cutis laxa Mitochondrial complex III deficiency, nuclear type Deafness, autosomal dominant Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Maturity-onset diabetes of the young Multiple sclerosis, susceptibility to Duane retraction syndrome Kenny-Caffey syndrome Dyschromatosis universalis hereditaria Dyskeratosis congenita Dystonia Episodic kinesigenic dyskinesia Ehlers-Danlos syndrome Multiple endocrine neoplasia Camurati-Engelmann disease Epidermolysis bullosa simplex Photoparoxysmal response Epiphyseal dysplasia, multiple Erythrocytosis, familial Erythrokeratodermia variabilis et progressiva Exostoses, multiple Exudative vitreoretinopathy Fanconi renotubular syndrome Birt-Hogg-Dube syndrome Gingival fibromatosis Zimmermann-Laband syndrome Fibrosis of extraocular muscles, congenital Coffin-Siris syndrome Focal facial dermal dysplasia Foveal hypoplasia Macular dystrophy, retinal Frontonasal dysplasia Corneal dystrophy, Fuchs endothelial Glioma Glomerulopathy with fibronectin deposits Goiter, multinodular Hematuria, benign familial Migraine, familial hemiplegic Diaphragmatic hernia Hirschsprung disease Acne inversa Developmental dysplasia of the hip Hypercalcemia, infantile Hypercholesterolemia, familial Palmoplantar keratoderma, epidermolytic Hyperparathyroidism Pseudohypoaldosteronism, type II Teebi hypertelorism syndrome Malignant hyperthermia Hypocalciuric hypercalcemia Hypoparathyroidism, familial Ichthyosis hystrix Hyper-IgE recurrent infection syndrome Kabuki syndrome Hypogonadotropic hypogonadism with or without anosmia Keratitis-ichthyosis-deafness syndrome Keratoconus Hyperekplexia Lacrimoauriculodentodigital syndrome LEOPARD syndrome Li-Fraumeni syndrome Lipodystrophy, familial partial Lymphatic malformation Macroglobulinemia, Waldenstrom Macular dystrophy, vitelliform Treacher Collins syndrome Myopathy, visceral Melanoma, cutaneous malignant Intellectual developmental disorder, autosomal dominant Skin creases, congenital symmetric circumferential Migraine with or without aura, susceptibility to Mirror movements Progressive external ophthalmoplegia with mtDNA deletions Mitral valve prolapse, myxomatous Monilethrix Cowden disease Spinal muscular atrophy, lower extremity-predominant Bethlem myopathy Facioscapulohumeral muscular dystrophy Episodic ataxia Myopathy, centronuclear Myopathy, distal Myopathy, tubular aggregate Myopia Myotonic dystrophy Nail disorder, nonsyndromic congenital Narcolepsy Nemaline myopathy IgA nephropathy Tubulointerstitial kidney disease Schwannomatosis Hereditary sensory and autonomic neuropathy Noonan syndrome Craniofacial microsomia Feingold syndrome Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Spinocerebellar ataxia Optic atrophy Osteogenesis imperfecta Otofaciocervical syndrome Otosclerosis Nephrolithiasis, calcium oxalate Pachyonychia congenita Paget disease of bone Inclusion body myopathy/Paget disease/frontotemporal dementia Panic disorder Pheochromocytoma/paraganglioma syndrome Parietal foramina Parkinson disease Macular dystrophy, patterned Leukodystrophy, demyelinating, adult-onset Polycystic kidney disease Polycystic liver disease Polydactyly, postaxial Polydactyly, preaxial Familial adenomatous polyposis Brain small vessel disease Porokeratosis Precocious puberty, central Progeria or progeroid syndrome Protoporphyria, erythropoietic Liddle syndrome Pseudohypoaldosteronism, type I Psoriasis Contractures, pterygia, and variable skeletal fusions syndrome Pulmonary hypertension, primary Pyloric stenosis, infantile hypertrophic Distal renal tubular acidosis Reticulate pigment disorders Axenfeld-Rieger syndrome Rubinstein-Taybi syndrome Silver-Russell syndrome Singleton-Merten syndrome Neuronopathy, distal hereditary motor, autosomal dominant Split-hand/foot malformation Spondylometaphyseal dysplasia Odontochondrodysplasia Stuttering, familial persistent Otospondylomegaepiphyseal dysplasia Proximal symphalangism Multiple synostoses syndrome Telangiectasia, hereditary hemorrhagic Thrombocythemia Thrombophilia Thyroid cancer, nonmedullary Thyrotoxic periodic paralysis Preeclampsia/eclampsia Tremor, hereditary essential Trichorhinophalangeal syndrome Trigonocephaly, isolated Tuberous sclerosis Renal hypodysplasia/aplasia Long QT syndrome Cardiomyopathy, familial hypertrophic Vesicoureteral reflux Hypophosphatemic rickets Waardenburg syndrome WHIM syndrome White sponge nevus Wilms tumor Achondrogenesis Carpenter syndrome Glucocorticoid deficiency Neutropenia, severe congenital Oculocutaneous albinism Hermansky-Pudlak syndrome Alopecia-intellectual disability syndrome Alopecia, isolated Leber congenital amaurosis Anemia, hypochromic microcytic, with iron overload Anencephaly Generalized arterial calcification of infancy Arthrogryposis, renal dysfunction, and cholestasis Fetal akinesia deformation sequence Short-rib thoracic dysplasia Renal-hepatic-pancreatic dysplasia Central hypoventilation syndrome, congenital Bardet-Biedl syndrome MHC class II deficiency Methylcrotonylglycinuria Sitosterolemia Seckel syndrome Microcephaly, growth restriction and increased sister chromatid exchange Bronchiectasis Brown-Vialetto-Van Laere syndrome Cholestasis, progressive familial intrahepatic Congenital disorders of glycosylation, type I Congenital disorders of glycosylation, type II Cardiac valvular defect Martsolf syndrome Celiac disease Spinocerebellar ataxia, autosomal recessive Joubert syndrome Basal ganglia calcification, idiopathic Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome Peroxisome biogenesis disorder Cerebrooculofacioskeletal syndrome Griscelli syndrome Diarrhea, congenital Rhizomelic chondrodysplasia punctata Choroidal dystrophy, central areolar Cranioectodermal dysplasia Fraser syndrome ACTH-independent macronodular adrenal hyperplasia Mitochondrial complex IV deficiency, nuclear-type Hypouricemia, renal Ritscher-Schinzel syndrome Deafness, autosomal recessive Jervell and Lange-Nielsen syndrome Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly Leukoencephalopathy, hereditary diffuse, with spheroids Persistent hyperplastic primary vitreous Trichohepatoenteric syndrome Orthostatic hypotension Cerebellar ataxia, mental retardation, and dysequilibrium Anemia, congenital dyserythropoietic Meier-Gorlin syndrome Aicardi-Goutieres syndrome Epidermodysplasia verruciformis, susceptibility to Epidermolysis bullosa, junctional Skin/hair/eye pigmentation, variation in Fanconi anemia Fibrochondrogenesis Infantile myofibromatosis Brittle cornea syndrome Galactosemia Geleophysic dysplasia Hydatidiform mole, recurrent Bleeding disorder, platelet-type Glycogen storage disease Ovarian dysgenesis Perrault syndrome Neurodegeneration with brain iron accumulation Hemochromatosis Hemolytic uremic syndrome Hennekam lymphangiectasia-lymphedema syndrome Holoprosencephaly Homocystinuria-megaloblastic anemia Hydrocephalus, congenital Muscular dystrophy-dystroglycanopathy, type A Hydrolethalus syndrome Urofacial syndrome Hyperbilirubinemia Hyperphosphatasia with mental retardation syndrome Hypoplastic left heart syndrome Ichthyosis, congenital, autosomal recessive Immunodeficiency-centromeric instability-facial anomalies Gastrointestinal defect and immunodeficiency syndrome Visceral neuropathy, familial Cholestasis, benign recurrent intrahepatic Baraitser-Winter syndrome Primary ciliary dyskinesia Specific granule deficiency Growth hormone insensitivity syndrome with immune dysregulation Stargardt disease Mandibuloacral dysplasia with lipodystrophy Maple syrup urine disease Meckel syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Thiamine-responsive dysfunction syndrome Intellectual developmental disorder, autosomal recessive 3-Methylglutaconic aciduria Methylmalonic aciduria Microcephaly, primary Microcephaly and chorioretinopathy Diencephalic-mesencephalic junction dysplasia syndrome Pseudo-TORCH syndrome Galloway-Mowat syndrome Desbuquois dysplasia Microphthalmia, isolated Mitochondrial complex I deficiency, nuclear type Mitochondrial complex II deficiency, nuclear type Molybdenum cofactor deficiency Monosomy 7 myelodysplasia and leukemia syndrome Moyamoya disease Spinal muscular atrophy Lethal congenital contracture syndrome Muscular dystrophy, limb-girdle, autosomal recessive Ullrich congenital muscular dystrophy Miyoshi muscular dystrophy Epilepsy, myoclonic juvenile Myoclonic epilepsy of Lafora Epilepsy, progressive myoclonic Carey-Fineman-Ziter syndrome Proteosome-associated autoinflammatory syndrome Nephronophthisis Nephrotic syndrome Hyperinsulinemia hypoglycemia Neu-Laxova syndrome Mucolipidosis Ceroid lipofuscinoses Giant axonal neuropathy Mosaic variegated aneuploidy syndrome 3MC syndrome Spermatogenic failure Omodysplasia Hypertropic osteoarthropathy, primary Bruck syndrome Osteopetrosis, autosomal recessive Hyperoxaluria, primary Pancreatic agenesis Schwachman-Diamond syndrome Imerslund-Grasbeck syndrome Isolated growth hormone deficiency Surfactant metabolism dysfunction, pulmonary Pulmonary venoocclusive disease Inflammatory bowel disease Senior-Loken syndrome Hemophagocytic lymphohistiocytosis, familial Knobloch syndrome Retinitis pigmentosa Enhanced S-cone syndrome Robinow syndrome Rothmund-Thomson syndrome Sclerosteosis Peeling skin syndrome Spondyloepimetaphyseal dysplasia with joint laxity Striatonigral degeneration Cold-induced sweating syndrome Tetraamelia syndrome Three M syndrome Glanzmann thrombasthenia Thyroid dyshormonogenesis Hypothyroidism, congenital, nongoitrous Restrictive dermopathy Mismatch repair cancer syndrome Tyrosinemia Usher syndrome Vas deferens, congenital bilateral aplasia of Spondylocostal dysostosis Methylmalonic aciduria and homocystinuria Vitamin K-dependent clotting factors, combined deficiency of Weill-Marchesani syndrome Lysosomal acid lipase deficiency Xanthinuria Dent disease Periventricular nodular heterotopia Ectodermal dysplasia and immune deficiency Microphthalmia, isolated, with coloboma Cerebral creatine deficiency syndrome Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features Hypospadias Anemia, sideroblastic Immunodeficiency (select examples) Paroxysmal nocturnal hemoglobinuria Anemia, congenital, nonspherocytic hemolytic Alport syndrome Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 Spastic paraplegia Deafness, X-linked Ectodermal dysplasia (select examples) FG syndrome Frontometaphyseal dysplasia Granulomatous disease, chronic Heterotaxy, visceral IFAP syndrome Immunodeficiency with hyper-IgM Lymphoproliferative syndrome Developmental and epileptic encephalopathy Intellectual developmental disorder, X-linked syndromic Intellectual developmental disorder, nonsyndromic, X-linked Microphthalmia, syndromic Linear skin defects with multiple congenital anomalies Emery-Dreifuss muscular dystrophy Night blindness, congenital stationary Nystagmus, congenital Orofaciodigital syndrome Premature ovarian failure Leukodystrophy, hypomyelinating Pyruvate dehydrogenase complex deficiency Thrombocytopenia Wieacker-Wolff syndrome Deafness, Y-linked 46,XY sex reversal Warburg micro syndrome Epilepsy, childhood absence Nanophthalmos Myopathy, lactic acidosis, and sideroblastic anemia Epilepsy, familial temporal lobe Epilepsy, nocturnal frontal lobe UV-sensitive syndrome Epilepsy, idiopathic generalized D-2-hydroxyglutaric aciduria Gallbladder disease Epilepsy, familial adult myoclonic Supranuclear palsy, progressive Brugada syndrome Hypocalcemia Polyposis syndrome, hereditary mixed Van Maldergem syndrome Myopathy, myofibrillar Severe combined immunodeficiency (select examples) Myasthenic syndrome, congenital Facial paresis, hereditary congenital Agammaglobulinemia Stuve-Wiedemann syndrome Trichothiodystrophy Bartter syndrome Systemic lupus erythematosus Seizures, benign familial infantile Hypomagnesemia Auriculocondylar syndrome Branchiootic syndrome Acromesomelic dysplasia Mitochondrial DNA depletion syndrome Macular degeneration, age-related Dermatitis, atopic Focal segmental glomerulosclerosis Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Muscular dystrophy, limb-girdle, autosomal dominant Leukoencephalopathy with vanishing white matter Microvascular complications of diabetes Leukoencephalopathy, megalencephalic Left ventricular noncompaction Epilepsy, generalized, with febrile seizures plus Mitochondrial complex V (ATP synthase) deficiency, nuclear type Neuronopathy, distal hereditary motor, autosomal recessive Advanced sleep phase syndrome Epilepsy, familial focal, with variable foci Breast-ovarian cancer, familial, susceptibility to Ataxia-telangiectasia-like disorder Amegakaryocytic thrombocytopenia, congenital MHC class I deficiency Ventricular tachycardia, catecholaminergic polymorphic Cortisone reductase deficiency Neuropathy, congenital hypomelinating Hypotrichosis Radioulnar synostosis with amegakaryocytic thrombocytopenia Abdominal obesity-metabolic syndrome Multiple mitochondrial dysfunctions syndrome Glycine encephalopathy Diabetes mellitus, permanent neonatal Atrioventricular septal defect Dyskinesia with orofacial involvement Specific language impairment Glut1 deficiency syndrome Mucopolysaccharidoses Aortic aneurysm, familial thoracic Anauxetic dysplasia Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Gaze palsy, familial horizontal, with progressive scoliosis Smith-McCort dysplasia Patent ductus arteriosus Coenzyme Q10 deficiency, primary Lissencephaly Immunodeficiency, common variable Pontocerebellar hypoplasia Ichthyosis, annular epidermolytic Epilepsy, juvenile absence Osteopetrosis, autosomal dominant Noonan syndrome-like disorder with loose anagen hair Hypercholanemia, familial Bile acid synthesis defect, congenital Kala-azar, susceptibility to Capillary malformation-arteriovenous malformation Prolonged electroretinal response suppression Sick sinus syndrome Atrial fibrillation, familial Lipodystrophy, congenital generalized Asperger syndrome, susceptibility to Avascular necrosis of femoral head, primary Mitochondrial trifunctional protein deficiency Combined oxidative phosphorylation deficiency Auditory neuropathy Striatal degeneration, autosomal dominant Loeys-Dietz syndrome Muscular dystrophy-dystroglycanopathy, type C Rhabdoid tumor predisposition syndrome Short QT syndrome Chronic recurrent multifocal osteomyelitis Thyroid hormone metabolism, abnormal Kleefstra syndrome Chilblain lupus Thiopurines, poor metabolism of Pigmented nodular adrenocortical disease, primary Myasthenic syndrome, congenital, with tubular aggregates Encephalopathy/encephalitis, acute, infection-induced Congenital anomalies of kidney and urinary tract Cerebroretinal microangiopathy with calcfications and cysts Nephrolithiasis/osteoporosis, hypophosphatemic Spastic quadriplegic cerebral palsy Short sleep, familial natural Pituitary hormone deficiency, combined Macrothrombocytopenia, isolated Parkinsonism-dystonia, infantile Muscular dystrophy-dystroglycanopathy, type B Hypermanganesemia with dystonia Hot water epilepsy Ectodermal dysplasia-syndactyly syndrome C1q deficiency Rajab interstitial lung disease with brain calcifications Cortical dysplasia, complex, with other brain malformations Multiple congenital anomalies-hypotonia-seizures syndrome Microcephaly, epilepsy, and diabetes syndrome Lectin complement activation pathway defects Encephalopathy due to defective mitochondrial and peroxisomal fission Ventricular septal defect Bent bone dysplasia syndrome Olmsted syndrome Bone marrow failure syndrome Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related Myoclonus, familial Familial episodic pain syndrome Congenital disorder of deglycosylation Hypotonia, infantile, with psychomotor retardation and characteristic facies Infantile liver failure syndrome Oocyte/zygote/embryo maturation arrest Polyglucosan body myopathy Autoimmune disease, multisystem, infantile-onset Microcephaly, short stature, and impaired glucose metabolism Cardiac conduction disease with or without cardiomyoopathy Short stature with nonspecific skeletal abnormalities Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset Houge-Janssens syndrome Hypomagnesemia, seizures, and mental retardation Autoinflammatory syndrome, familial, Behcet-like Spinal muscular atrophy with congenital bone fractures Developmental delay with short stature, dysmorphic facial features, and sparse hair Portal hypertension, noncirrhotic Autoinflammation, panniculitis, and dermatosis syndrome Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Cone-rod dystrophy and hearing loss Epilepsy, early-onset Arthrogryposis multiplex congenita Vertebral, cardiac, renal, and limb defects syndrome Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Ververi-Brady syndrome Congenital disorder of glycosylation with defective fucosylation Menke-Hennekam syndrome Combined osteogenesis imperfecta and Ehlers-Danlos syndrome Cardioacrofacial dysplasia Leber hereditary optic neuropathy, autosomal recessive Neuroocular syndrome Interstitial lung disease Bryant-Li-Bhoj neurodevelopmental syndrome Tessadori-Van-Haaften neurodevelopmental syndrome Braddock-Carey Syndrome Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis Atelis syndrome Rhabdomyolysis, susceptibility to Fetomaternal alloimmune thrombocytopenia