C53543Level 5

Rare Non-Neoplastic Disorder

**Semantic type:** Disease or Syndrome

**Definition:** A non-neoplastic disorder that is uncommon.

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C101215Mullerian Inhibiting Factor Deficiency

C103921Lissencephaly

C103968Pyruvate Dehydrogenase Deficiency

C111647Levocardia

C111814Griscelli Syndrome Type 2

C114766Carnitine Palmitoyltransferase II Deficiency

C115207Congenital Amegakaryocytic Thrombocytopenia

C115326Pearson Syndrome

C116319Trisomy 14 Mosaicism

C117273Heterotaxy Syndrome

C118434Albright's Hereditary Osteodystrophy

C118435Dyschromatosis Symmetrica Hereditaria

C118436Fraser Syndrome

C118438Osteopetrosis with Renal Tubular Acidosis

C118633Neuropathy, Hereditary Sensory and Autonomic, Type IV

C118635Pseudoachondroplasia

C118636Stiff Skin Syndrome

C118711Optic Neuropathy

C118786Autosomal Dominant Popliteal Pterygium Syndrome

C118788Vitelliform Macular Dystrophy

C119676D-Bifunctional Protein Deficiency

C119677Alpha-Methylacyl-CoA Racemase Deficiency

C119678Mitochondrial Neurogastrointestinal Encephalopathy

C120046Congenital Fiber-Type Disproportion

C121563Lysinuric Protein Intolerance

C121564Adenine Phosphoribosyltransferase Deficiency

C121565Neonatal Progeroid Syndrome

C121675Rhizomelic Dysplasia

C121945Heritable Pulmonary Arterial Hypertension

C121946Drug- and Toxin-Induced Pulmonary Arterial Hypertension

C122653Dentatorubral-Pallidoluysian Atrophy

C122655Neuronal Intranuclear Inclusion Disease

C122657LIG4 Syndrome

C123417Mandibuloacral Dysplasia with Type A Lipodystrophy

C123429Hyperkalemic Periodic Paralysis

C123433Hyperlysinemia

C123434Immunoglobulin A Deficiency 1

C123435Methionine Adenosyltransferase Deficiency

C123436Peters-Plus Syndrome

C123437Multicentric Osteolysis, Nodulosis, and Arthropathy

C123639Imperforate Vagina

C123813Beare-Stevenson Cutis Gyrata Syndrome

C123814Jackson-Weiss Syndrome

C123815Myhre Syndrome

C124575Pseudohermaphroditism

C124837Kabuki Syndrome

C124838Orofacial Cleft 1

C124840Shprintzen-Goldberg Craniosynostosis Syndrome

C124841Orofaciodigital Syndrome Type 6

C124844Dyggve-Melchior-Clausen Syndrome

C124845Hyperglycerolemia

C124846Potocki-Lupski Syndrome

C124851Analbuminemia

C124853Mayer-Rokitansky-Kuster-Hauser Syndrome

C125385Paroxysmal Extreme Pain Disorder

C125386Indifference to Pain, Congenital, Autosomal Recessive

C125387Migrating Partial Seizures in Infancy

C125388Neuropathy, Hereditary Sensory and Autonomic, Type VII

C125390Episodic Pain Syndrome, Familial, 3

C125418Pseudotrisomy 13 Syndrome

C125419Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2

C125488Seckel Syndrome

C125591Dubowitz Syndrome

C125592Holt-Oram Syndrome

C125593Hyperpipecolatemia

C125594Kniest Dysplasia

C125599Weaver Syndrome

C125661Carnosinemia

C125664Pain Agnosia

C125693Atransferrinemia

C125694Sitosterolemia

C126326Roberts Syndrome

C126558Combined Lipase Deficiency

C126559Hard Skin Syndrome Parana Type

C126560Leri-Weill Dyschondrosteosis

C126744Codas Syndrome

C126746Congenital Disorder of Deglycosylation

C128115Marshall Syndrome

C128802Acrodermatitis Enteropathica

C128804D-Glyceric Aciduria

C128805Generalized Arterial Calcification of Infancy 1

C129023Deafness, Autosomal Recessive 28

C129024Deafness, Autosomal Recessive 49

C129025Exfoliation Syndrome

C129028Frontonasal Dysplasia

C129029Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

C129030Pancreatic Lipase Deficiency

C129031Spondyloepimetaphyseal Dysplasia, Sponastrime Type

C129035Thrombocytopenia 2

C129070Cystathioninuria

C129071Fetal Akinesia Deformation Sequence

C129072Hereditary Persistence of Fetal Hemoglobin

C129075Leber Congenital Amaurosis

C129076Molybdenum Cofactor Deficiency

C129303Congenital Bilateral Aplasia of the Vas Deferens

C129305Cranioectodermal Dysplasia

C129306Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1

C129307N-Acetylglutamate Synthase Deficiency

C129308Schinzel-Giedion Midface-Retraction Syndrome

C129874Deafness, Autosomal Recessive 39

C129929Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

C129933Primary Lateral Sclerosis

C129974Inosine Triphosphatase Deficiency

C129975Isobutyryl-CoA Dehydrogenase Deficiency

C129976Kleefstra Syndrome

C131133Sclerosteosis

C131648Plasma Kallikrein Deficiency

C131651Tissue Kallikrein Deficiency

C131811Eiken Type Chondrodysplasia

C131868Metaphyseal Chondrodysplasia, Jansen Type

C132080Congenital Pseudarthrosis of Tibia

C132195Galloway-Mowat Syndrome

C132196Carboxypeptidase N Deficiency

C132224Ataxia-Telangiectasia-Like Disorder 1

C132290Carbonic Anhydrase I Deficiency

C133086Carnitine-Acylcarnitine Translocase Deficiency

C133727Hypoparathyroidism-Intellectual Developmental Disorder-Dysmorphism Syndrome

C133743Cortical Dysplasia-Focal Epilepsy Syndrome

C133887Acute Hepatic Porphyria

C135087Schimke Immunoosseous Dysplasia

C135088Spondyloperipheral Dysplasia

C136464Acrodysostosis 1

C141442GTP Cyclohydrolase I Deficiency

C142083Coenzyme Q10 Deficiency

C142084Bleeding Disorder, Platelet-Type 17

C142085Aromatic L-Amino-Acid Decarboxylase Deficiency

C142806Transcobalamin II Deficiency

C148321Mitochondrially Inherited Nonsyndromic Sensorineural Deafness

C148325Rippling Muscle Disease 2

C148327HyperCKmia

C150608Minicore Myopathy with External Ophthalmoplegia

C154618Lethal Neonatal Rigidity and Multifocal Seizure Syndrome

C156031Xeroderma Pigmentosum-Cockayne Syndrome Complex

C156311Diastrophic Dysplasia

C156360Neuropathy, Hereditary Sensory and Autonomic, Type V

C156424Hereditary Folate Malabsorption

C156430Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

C157123Infantile-Onset Multisystem Autoimmune Disease 1

C157124Phelan-McDermid Syndrome

C157158Tyrosine Hydroxylase Deficiency

C157267POLG-Related Spectrum Disorders

C157268Relapsing Polychondritis

C157576Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

C158787Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

C158788Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss

C158967Crystal-Storing Histiocytosis

C161005Familial Focal Epilepsy with Variable Foci 1

C162696Familial Platelet Disorder with Associated Myeloid Malignancy

C164154Intellectual Developmental Disorder with Cardiac Arrhythmia

C168586Asparagine Synthetase Deficiency

C168598Epilepsy, Focal, with Speech Disorder and with or without Intellectual Developmental Disorder

C170433Neuropathy, Hereditary Sensory and Autonomic, Type I

C170437Peroxisomal Acyl-CoA Oxidase Deficiency

C170731Winchester Syndrome

C171603Leukoencephalopathy with Ataxia

C175208Familial Digital Arthropathy-Brachydactyly

C175209Metatropic Dysplasia

C175240Autosomal Dominant Congenital Deafness with Onychodystrophy

C175241Floating-Harbor Syndrome

C176601Mendelian Susceptibility to Mycobacterial Diseases

C176631PIK3R1 Deficiency

C176704YARSopathy

C176792Gastrointestinal Defects and Immunodeficiency Syndrome

C176903Rett Syndrome, Congenital Variant

C177535Poikiloderma with Neutropenia

C177539Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis

C178285PROS Syndrome

C178415Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

C178416Multicentric Carpotarsal Osteolysis Syndrome

C179297Idiopathic Basal Ganglia Calcification

C179298Acromesomelic Dysplasia, PRKG2 Type

C183530Diarrhea 5, with Tufting Enteropathy, Congenital

C185235Mitochondrial DNA Depletion Syndromes

C185244Y-Linked Spermatogenic Failure-2

C185245Familial Catecholamine-Induced QT Prolongation

C186308Dactylomegaly

C188145Oocyte Maturation Defect-4

C188148Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly

C188151Primary Aldosteronism, Seizures, and Neurologic Abnormalities

C188991Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

C188993Van Maldergem Syndrome 1

C188994Van Maldergem Syndrome 2

C189281Aceruloplasminemia

C189285Complex Cortical Dysplasia with other Brain Malformations 5

C190873Oculopharyngodistal Myopathy 2

C192092Xia-Gibbs Syndrome

C192634Chronic Intestinal Pseudo-Obstruction

C192636Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy

C197857Marchiafava-Bignami Disease

C197936Multifocal Fibrosclerosis

C201589Li-Campeau Syndrome

C201591Arterial Calcification due to Deficiency of CD73

C201594Knobloch Syndrome 1

C201595Sifrim-Hitz-Weiss Syndrome

C201597Osteootohepatoenteric Syndrome

C202018Autosomal Recessive Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

C202047Dyskinesia with Orofacial Involvement

C202071Ossification of the Ligamentum Flavum

C202072Periventricular Nodular Heterotopia

C202114Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome-1

C202117Mitochondrial Pyruvate Carrier Deficiency

C202118Ossification of Anterior Longitudinal Ligament

C202121Generalized Pustular Psoriasis

C202544Alacrima, Achalasia, and Impaired Intellectual Development Syndrome

C202546Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress

C202602Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum

C202604Focal Segmental Glomerulosclerosis 7

C202607Geleophysic Dysplasia 1

C202608Multiple Mitochondrial Dysfunctions Syndrome Type 3

C202612Progressive Pseudorheumatoid Dysplasia

C205642Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities

C206112Naxos Disease

C206114Familial Focal Epilepsy with Variable Foci 2

C206115Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2

C206116Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

C206518Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Dominant

C206530Anti-Synthetase Syndrome

C206531Immune-Mediated Necrotizing Myopathy

C206532Neurodevelopmental Disorder with or without Variable Brain Abnormalities

C206547Complex Regional Pain Syndrome

C210826Johanson-Blizzard Syndrome

C210872Lopes-Maciel-Rodan Syndrome

C210888Early-Onset Vitamin B6-Dependent Epilepsy-4

C210890Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic Facies

C212884Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2

C212885Biotin-Thiamine-Responsive Basal Ganglia Disease

C212886Cone-Rod Dystrophy 12

C212887Deafness, Autosomal Dominant 10

C214861Familial Encephalopathy with Neuroserpin Inclusion Bodies

C214872Huntington Disease-Like 1

C214873Neuropathy, Hereditary Sensory, Type IE

C215155Neurodevelopmental Disorder with Language Impairment, Autism, and Attention Deficit-Hyperactivity Disorder

C215157Schaaf-Yang Syndrome

C217084Brain Malformations with or without Urinary Tract Defects

C217086Familial Focal Epilepsy with Variable Foci 3

C217089Paroxysmal Familial Ventricular Fibrillation-2

C219969Gorham-Stout Disease

C220070Orofacial Digital Syndrome 2

C26798Hypophosphatasia

C26867Kimura Disease

C27562Hyaline Membrane Syndrome

C27961Neurotoxicity Syndrome

C3040Fibrodysplasia Ossificans Progressiva

C34357Holmes-Adie Syndrome

C34412Bartter Syndrome

C3444Granulomatosis with Polyangiitis

C34503Xerophthalmia

C34567Ectromelia

C34593Erythromelalgia

C34649Goodpasture Syndrome

C34766Perthes Disease

C34792Hemophagocytic Lymphohistiocytosis

C34806Maple Syrup Urine Disease

C34852Gangrenous Stomatitis

C34907Benign Mucous Membrane Pemphigoid

C35133Wolfram Syndrome

C35467Achenbach Syndrome

C35709Aagenaes Syndrome

C35710Triple A Syndrome

C35809Achard Syndrome

C37261Hermansky-Pudlak Syndrome

C3817Cerebrooculofacioskeletal Syndrome

C40553Tooth and Nail Syndrome

C4924Trichothiodystrophy

C61245Cartilage Hair Hypoplasia

C61249Glanzmann Thrombasthenia

C61250Lysosomal Storage Disease

C61253Leukodystrophy

C61272Glycogen Storage Disease

C67383Epidermolysis Bullosa

C749831p36 Deletion Syndrome

C74984Stickler Syndrome

C74986Van der Woude Syndrome

C74987Feingold Syndrome

C74988Holoprosencephaly

C74996Joubert Syndrome

C74999Mowat-Wilson Syndrome

C75000Ectrodactyly

C75003Synpolydactyly

C75006Loeys-Dietz Syndrome

C75012Dandy-Walker Malformation

C75015Rieger Syndrome Type 1

C75016Cornelia De Lange Syndrome

C75018Treacher Collins Syndrome

C75019Sotos Syndrome

C75020Cleidocranial Dysplasia

C75100CHARGE Syndrome

C75109Trichorhinophalangeal Syndrome Type I

C75118Trichorhinophalangeal Syndrome Type II

C75120Nail-Patella Syndrome

C75456Potocki-Shaffer Syndrome

C75457Jacobsen Syndrome

C75458Pallister-Killian Syndrome

C75469Smith-Magenis Syndrome

C7547017q21 Microdeletion Syndrome

C75477Cat-Eye Syndrome

C7547822q Telomere Deletion Syndrome

C75481Orofaciodigital Syndrome Type 1

C75486Menkes Disease

C84521Deletion 18p Syndrome

C84522Deletion 18q Syndrome

C845245' 10' Methylenetetrahydrofolate Reductase Deficiency

C84526Acatalasemia

C84527Achondrogenesis

C84528Achromatopsia

C84530Acquired Hyperostosis Syndrome

C84531Acrocallosal Syndrome

C84532Acrodermatitis

C84533Acromegaly

C84537Long-Chain Acyl-CoA Dehydrogenase Deficiency

C84538Medium-Chain Acyl-CoA Dehydrogenase Deficiency

C84539Acyl-CoA Dehydrogenase, Short-Chain Deficiency

C84540Adiposis Dolorosa

C84549Alstrom Syndrome

C84552Amniotic Band Syndrome

C84559Long QT Syndrome 7

C84560Anencephaly

C84561Non-Trisomic Autosomal Aneuploidy

C84567Aortic Coarctation

C84569Argininosuccinic Aciduria

C84570Arnold-Chiari Malformation

C84571Arrhythmogenic Right Ventricular Dysplasia

C84572Arthrogryposis

C84574Atrophic Muscular Disorder

C84575Auditory Perceptual Disorder

C84576Autoimmune Polyendocrinopathy Syndrome

C84577Autosomal Dominant Optic Atrophy

C84595Bernard-Soulier Syndrome

C84598Biotinidase Deficiency

C84601Brown-Sequard Syndrome

C84606CADASIL Syndrome

C84607Calciphylaxis

C84609Campomelic Dysplasia

C84610Camurati-Engelmann Syndrome

C84617Cardiofaciocutaneous Syndrome

C84618Cataplexy

C84619Caroli Disease

C84628Cerebrotendinous Xanthomatosis

C84631Chilblains

C84638Ciliary Motility Defect

C84643Coffin-Lowry Syndrome

C84644Cogan-Reese Syndrome

C84645Congenital Cortical Hyperostosis

C84646Congenital Dyserythropoietic Anemia

C84647Congenital Myasthenic Syndrome

C84648Congenital Structural Myopathy

C84650Deafness due to Connexin 26 Gene Anomaly

C84651Cor Triatriatum

C84653Craniofacial Dysostosis

C84655Craniosynostosis

C84657Cryopyrin-Associated Periodic Syndrome

C84664Cystinuria

C84665Darier Disease

C84666De Sanctis-Cacchione Syndrome

C84667Dentinogenesis Imperfecta

C84669Dextrocardia

C84670Diffuse Cerebral Sclerosis of Schilder

C84671Diffuse Idiopathic Skeletal Hyperostosis

C84672Dihydropyrimidine Dehydrogenase Deficiency

C84676Donohue Syndrome

C84678Duane Syndrome

C84681Ebstein Anomaly

C84684Ellis-Van Creveld Syndrome

C84686Empty Sella Syndrome

C84696Erythrokeratodermia Variabilis

C84706Familial Dysautonomia

C84707Familial Mediterranean Fever

C84708Familial Partial Lipodystrophy

C84709Familial Periodic Paralysis

C84711Fatal Familial Insomnia

C84712Felty Syndrome

C84714Fibromuscular Dysplasia

C84715Focal Dermal Hypoplasia

C84716Fox-Fordyce Disease

C84718Friedreich Ataxia

C84719Frontotemporal Dementia

C84721Fuchs Endothelial Dystrophy

C84724Gastric Antral Vascular Ectasia

C84725Gastroschisis

C84726Genu Varum

C84727Gerstmann-Straussler-Scheinker Disease

C84728Giant Axonal Neuropathy

C84730Gitelman Syndrome

C84740Goldenhar Syndrome

C84741Gray Platelet Syndrome

C84743Gynatresia

C84744Gyrate Atrophy

C84745Hajdu-Cheney Syndrome

C84746Hallermann Syndrome

C84747Hantavirus Pulmonary Syndrome

C84748Hartnup Disease

C84750HELLP Syndrome

C84753Hemorrhagic Fever with Renal Syndrome

C84756Hepatolenticular Degeneration

C84758Hereditary Angioedema

C84760Hereditary Leukokeratosis

C84761Hereditary Hyperbilirubinemia

C84766Hydroa Vacciniforme

C84767Hydrops Fetalis

C84768Hymenolepiasis

C84771Hyperlipoproteinemia, Type I

C84773Familial Hypertrophic Cardiomyopathy

C84774Hypoalphalipoproteinemia

C84775Hypokalemic Periodic Paralysis

C84780Idiopathic CD4-Positive T-Lymphocytopenia

C84781Idiopathic Hypersomnolence

C84785Urea Cycle Metabolism Disorder

C84787Incontinentia Pigmenti

C84788West Syndrome

C84792Iridocorneal Endothelial Syndrome

C84793Jervell and Lange Nielsen Syndrome

C84794Jeune Syndrome

C84795Meesmann Corneal Dystrophy

C84798Kearns-Sayre Syndrome

C84799Kernicterus

C84800Kleine-Levin Syndrome

C84801Klippel-Trenaunay-Weber Syndrome

C84802Kluver-Bucy Syndrome

C84803Korsakoff Syndrome

C84804Lafora Disease

C84806Landau-Kleffner Syndrome

C84807Lateral Medullary Syndrome

C84808Leber Hereditary Optic Atrophy

C84813Lecithin Acyltransferase Deficiency

C84814Leigh Disease

C84816Lennox-Gastaut Syndrome

C84820LEOPARD Syndrome

C84825Leptospirosis

C84827Liddle Syndrome

C84829Lipoid Proteinosis of Urbach and Wiethe

C84833Malakoplakia

C84835Malignant Atrophic Papulosis

C84869Malignant Hyperthermia Syndrome

C84881Mallory-Weiss Syndrome

C84882Mansonelliasis

C84883Marburg Virus Disease

C84885MELAS Syndrome

C84886Melkersson-Rosenthal Syndrome

C84887Melorheostosis

C84888Meningeal Tuberculosis

C84889Myoclonic Epilepsy Associated with Ragged-Red Fibers

C84892Mixed Connective Tissue Disease

C84893Mobius Syndrome

C84894Monilethrix

C84895Moyamoya Disease

C84904Muenke Syndrome

C84906Mulibrey Nanism

C84907Multiple Acyl-CoA Dehydrogenase Deficiency

C84909Multiple System Atrophy

C84910Muscular Dystrophy

C84913Myotonic Disorder

C84917Nelson Syndrome

C84918Nephrocalcinosis

C84920Nephrogenic Fibrosing Dermopathy

C84923Neural Tube Defect

C84926Neuroacanthocytosis

C84927Infantile Neuroaxonal Dystrophy

C84932Neurocysticercosis

C84934Neuromyelitis Optica

C84938Ochronosis

C84975Ossification of Posterior Longitudinal Ligament

C84978Osteochondrodysplasia

C84985Osteopoikilosis

C84986Pachyonychia Congenita

C84987Pallister-Hall Syndrome

C84989Panuveitis

C84992Papillon-Lefevre Syndrome

C84995Paragonimiasis

C85002Pelger-Huet Anomaly

C85003Pemphigoid Gestationis

C85004Peritoneal Panniculitis

C85006Persistent Fetal Circulation

C85008Pick's Disease

C85009Piebaldism

C85010Pierre Robin Syndrome

C85012Piriformis Muscle Syndrome

C85013Pityriasis Lichenoides

C85014Pityriasis Rubra Pilaris

C85016Plummer-Vinson Syndrome

C85017Poland Syndrome

C85023Primary Hypertrophic Osteoarthropathy

C85024Primary Progressive Aphasia

C85026Progressive Bulbar Palsy

C85027Progressive Muscular Atrophy

C85028Progressive Supranuclear Palsy

C85029Prolidase Deficiency

C85031Prosopagnosia

C85033Prune Belly Syndrome

C85034Pseudohypoaldosteronism

C85035Pseudotumor Cerebri

C85036Pseudoxanthoma Elasticum

C85046Retinoschisis

C85048Robinow Syndrome

C85056Scimitar Syndrome

C85057Scleredema Adultorum

C85061Scleromyxedema

C85062Sea-Blue Histiocyte Syndrome

C85063Septo-Optic Dysplasia

C85065Short Rib-Polydactyly Syndrome

C85068Russell-Silver Syndrome

C85070Sjogren-Larsson Syndrome

C85071Smith-Lemli-Opitz Syndrome

C85072Spasmodic Torticollis

C85073Selective Antibody Deficiency with Normal Immunoglobulins

C85075Spinal Muscular Atrophy

C85077Staphylococcal Scalded Skin Syndrome

C85078Stargardt Disease

C85079Status Epilepticus

C85170Stiff Person Syndrome

C85171Subacute Sclerosing Panencephalitis

C85174SUNCT Syndrome

C85175Superior Mesenteric Artery Syndrome

C85177Sweet Syndrome

C85178Swyer James Syndrome

C85181Takotsubo Cardiomyopathy

C85182Tangier Disease

C85187Thanatophoric Dysplasia

C85188Thoracic Outlet Syndrome

C85190Thyroid Dysgenesis

C85191Thyroid Hormone Resistance Syndrome

C85192Togaviridae Infection

C85193Tolosa-Hunt Syndrome

C85195Tracheobronchomalacia

C85196Tracheobronchomegaly

C85198Transient Global Amnesia

C85199Trichinosis

C85203Trigger Finger Disorder

C85204Triploidy Syndrome

C85207True Hermaphroditism

C85215Uniparental Disomy

C85217Usher Syndrome

C85218Uveomeningoencephalitic Syndrome

C85222Waardenburg Syndrome

C85224Wandering Spleen

C85225Waterhouse-Friderichsen Syndrome

C85226Weill-Marchesani Syndrome

C85228Whipple Disease

C85232Williams Syndrome

C85236XXXY and XXXXY Syndrome

C8523747,XYY Syndrome

C85238Yellow Nail Syndrome

C98573Factor V Leiden

C98647Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

C98815Antithrombin III Deficiency

C98824Aprosencephaly

C98842Holocarboxylase Synthetase Deficiency

C98864Primary Carnitine Deficiency

C98871Carnitine Palmitoyltransferase I Deficiency

C98908Cryptophthalmos Syndrome

C98910Cytochrome-C Oxidase Deficiency

C98932Fryns Syndrome

C98933Glucose-6-Phosphate Dehydrogenase Deficiency

C98944Hereditary Orotic Aciduria

C98946High Molecular Weight Kininogen Deficiency

C98967Klippel-Feil Syndrome

C98978Meckel-Gruber Syndrome

C98982MMIH Syndrome

C98986Methylmalonic Acidemia

C98994NADH Dehydrogenase Deficiency

C99022Prekallikrein Deficiency

C99038Radial Aplasia-Thrombocytopenia Syndrome

C99067Surfactant Protein Deficiency

Cross-system equivalences0

No cross-system equivalences mapped for this node.

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