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Rare Non-Neoplastic Disorder

MedGen UID:: 354119
•Concept ID:: C1709838
•: Disease or Syndrome

Definition

A non-neoplastic disorder that is rare. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRare Non-Neoplastic Disorder

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Non-Neoplastic Disorder
      - Non-Neoplastic Disorder by Special Category
        Rare Non-Neoplastic Disorder
        11q partial monosomy syndrome
        17q21 Microdeletion Syndrome
        22q Telomere Deletion Syndrome
        3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
        5,10-Methylenetetrahydrofolate reductase deficiency
        Abetalipoproteinaemia
        Acatalasia
        Achard syndrome
        Achenbach syndrome
        Achondrogenesis
        Achondrogenesis type II
        Achondrogenesis, type IA
        Achondrogenesis, type IB
        Hypochondrogenesis
        Achromatopsia
        Achromatopsia 2
        Achromatopsia 3
        Achromatopsia 4
        Achromatopsia 5
        Acrocallosal syndrome
        Acrocephalosyndactyly
        Acrocephalosyndactyly type I
        Carpenter syndrome
        Pfeiffer syndrome
        Pfeiffer syndrome type 1
        Pfeiffer syndrome type 2
        Pfeiffer syndrome type 3
        Saethre-Chotzen syndrome
        Acrodermatitis
        Acrodysostosis 1
        Acromegaly
        Acromesomelic Dysplasia, PRKG2 Type
        Acute febrile neutrophilic dermatosis
        Acute intermittent porphyria
        Acyl-CoA oxidase deficiency
        Adenine phosphoribosyltransferase deficiency
        ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
        Agnosia
        Allesthesia
        Auditory agnosia
        Autotopagnosia
        Finger agnosia
        Gerstmann syndrome
        Gustatory agnosia
        Olfactory agnosia
        Prosopagnosia
        Tactile agnosia
        Astereognosia
        Time agnosia
        Topographical agnosia
        Visual agnosia
        Aicardi syndrome
        Ainhum
        Albinism
        Chédiak-Higashi syndrome
        Aleutian mink disease
        Ocular albinism
        Ocular albinism with late-onset sensorineural deafness
        Ocular albinism, type I
        Oculocutaneous albinism
        Hermansky-Pudlak syndrome
        Oculocutaneous albinism type 1
        Oculocutaneous albinism type 3
        Oculocutaneous albinism type 4
        Oculocutaneous albinism type 5
        Oculocutaneous albinism type 6
        Oculocutaneous albinism type 7
        Oculocutaneous albinism type 8
        Tyrosinase-negative oculocutaneous albinism
        Tyrosinase-positive oculocutaneous albinism
        Piebaldism
        Alkaptonuria
        Allan-Herndon-Dudley syndrome
        Alpha thalassemia-X-linked intellectual disability syndrome
        Alpha-methylacyl-CoA racemase deficiency
        Alstrom syndrome
        Amaurosis fugax
        Analbuminemia
        Anaphylotoxin inactivator deficiency
        Andersen Tawil syndrome
        Anencephaly
        Hydranencephaly
        Angioosteohypertrophic syndrome
        Capillary malformation-arteriovenous malformation 1
        Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
        Ankyloblepharon filiforme adnatum-cleft palate syndrome
        Ankyloblepharon filiforme-imperforate anus syndrome
        Anti-glomerular basement membrane disease
        Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
        Aprosencephaly
        Arginase deficiency
        Argininosuccinate lyase deficiency
        Arrhythmogenic right ventricular cardiomyopathy
        Arrhythmogenic right ventricular dysplasia 1
        Arrhythmogenic right ventricular dysplasia 2
        Arrhythmogenic right ventricular dysplasia 3
        Arrhythmogenic right ventricular dysplasia 4
        Arrhythmogenic right ventricular dysplasia 5
        Arrhythmogenic right ventricular dysplasia 6
        Arrhythmogenic right ventricular dysplasia 8
        Arrhythmogenic right ventricular dysplasia 9
        Arrhythmogenic right ventricular dysplasia 10
        Arrhythmogenic right ventricular dysplasia 11
        Arrhythmogenic right ventricular dysplasia 12
        Arrhythmogenic right ventricular dysplasia 13
        Arrhythmogenic right ventricular dysplasia, familial, 7
        Familial isolated arrhythmogenic right ventricular dysplasia
        Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
        Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
        Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
        Naxos disease
        Arterial calcification, generalized, of infancy, 1
        Arthrogryposis
        Congenital contractural arachnodactyly
        Freeman-Sheldon syndrome
        Ataxia-telangiectasia-like disorder 1
        Atransferrinemia
        Atrophia bulborum hereditaria
        Atrophic muscular disease
        Muscular dystrophy
        Autosomal recessive limb-girdle muscular dystrophy type 2I
        Autosomal recessive limb-girdle muscular dystrophy type 2K
        Becker muscular dystrophy
        Congenital muscular dystrophy due to LMNA mutation
        Distal myopathy
        Duchenne muscular dystrophy
        Eichsfeld type congenital muscular dystrophy
        Emery-Dreifuss muscular dystrophy
        Facioscapulohumeral muscular dystrophy
        Glycogen storage disease, type VII
        Limb-girdle muscular dystrophy
        Merosin deficient congenital muscular dystrophy
        Miyoshi muscular dystrophy 1
        Muscular Dystrophy Secondary to Mitochondrial Disorder
        Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
        Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
        Myotonic dystrophy
        Oculopharyngeal muscular dystrophy
        Scapulohumeral muscular dystrophy
        Ullrich congenital muscular dystrophy 1A
        Walker-Warburg congenital muscular dystrophy
        Post poliomyelitis syndrome
        Auditory processing disorder
        Hyperacusis
        Autoimmune polyendocrinopathy
        Autoimmune polyendocrinopathy type 3
        Autoimmune polyendocrinopathy type 4
        Polyglandular autoimmune syndrome, type 1
        Polyglandular autoimmune syndrome, type 2
        Autosomal dominant deafness - onychodystrophy syndrome
        Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
        Autosomal recessive DOPA responsive dystonia
        Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
        Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
        Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
        Ectodermal dysplasia 15, hypohidrotic/hair type
        Autosomal recessive nonsyndromic hearing loss 4
        Autosomal recessive nonsyndromic hearing loss 28
        Autosomal recessive nonsyndromic hearing loss 39
        Autosomal recessive nonsyndromic hearing loss 49
        Axenfeld-Rieger syndrome type 1
        Azorean disease
        Machado-Joseph disease type 1
        Machado-Joseph disease type 2
        Machado-Joseph disease type 3
        Bartter syndrome
        Antenatal Bartter syndrome
        Bartter disease type 1
        Bartter disease type 2
        Bartter disease type 5
        Bartter disease type 3
        Bartter disease type 4A
        Bartter disease type 4B
        Bartter syndrome type 4
        Bartter syndrome with hypocalcemia
        Beaded hair
        Beare-Stevenson cutis gyrata syndrome
        Benign intracranial hypertension
        Bernard Soulier syndrome
        Bernard-Soulier syndrome type C
        Bernard-Soulier syndrome, type A1
        Bernard-Soulier syndrome, type A1 (recessive)
        Bernard-Soulier syndrome, type B
        Beta-Methylcrotonylglycinuria
        Bifunctional peroxisomal enzyme deficiency
        Bilirubin encephalopathy
        Acute bilirubin encephalopathy
        Chronic bilirubin encephalopathy
        Kernicterus due to isoimmunization
        Biotinidase deficiency
        Borjeson-Forssman-Lehmann syndrome
        Brown-Séquard syndrome
        Calciphylaxis
        Calciphylaxis cutis
        Visceral calciphylaxis
        Camptomelic dysplasia
        Acampomelic campomelic dysplasia
        Cancrum oris
        Carbonic anhydrase I deficiency
        Cardio-facio-cutaneous syndrome
        Carnitine acylcarnitine translocase deficiency
        Carnitine palmitoyl transferase 1A deficiency
        Carnitine palmitoyltransferase II deficiency
        Carnitine palmitoyl transferase II deficiency, myopathic form
        Carnitine palmitoyl transferase II deficiency, neonatal form
        Carnitine palmitoyl transferase II deficiency, severe infantile form
        Carnosinemia
        Caroli disease
        Cat eye syndrome
        Cataplexy
        Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
        CARASIL syndrome
        Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
        Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
        Cerebral cysticercosis
        Channelopathy-associated congenital insensitivity to pain, autosomal recessive
        CHARGE association
        Chiari malformation
        Chiari malformation type III
        Chiari malformation type IV
        Chiari type I malformation
        Chiari type II malformation
        Chilblains
        Cholestanol storage disease
        Cholestasis-edema syndrome, Norwegian type
        Chondrodysplasia punctata
        Astley-Kendall dysplasia
        Child syndrome
        Greenberg dysplasia
        Keutel syndrome
        Rhizomelic chondrodysplasia punctata
        Rhizomelic chondrodysplasia punctata type 1
        Rhizomelic chondrodysplasia punctata type 2
        Rhizomelic chondrodysplasia punctata type 3
        Rhizomelic chondrodysplasia punctata type 5
        Chorea
        Chorea gravidarum
        Chorea-acanthocytosis
        Huntington disease
        Juvenile Huntington disease
        Westphal disease
        Sydenham chorea
        Choroideremia
        Chromosome 1p36 deletion syndrome
        Chromosome 2q37 deletion syndrome
        Cleidocranial dysostosis
        Coarctation of aorta
        Atypical coarctation of aorta
        Autosomal dominant coarctation of aorta
        Coarctation in the transverse aortic arch
        Coarctation of abdominal aorta
        Long segment coarctation of the aorta
        CODAS syndrome
        Coenzyme Q10 deficiency
        Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
        Autosomal recessive ataxia due to ubiquinone deficiency
        Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
        Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
        Familial steroid-resistant nephrotic syndrome with sensorineural deafness
        Leigh syndrome with nephrotic syndrome
        Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
        Coffin-Lowry syndrome
        COFS syndrome
        Cerebrooculofacioskeletal syndrome 1
        Cerebrooculofacioskeletal syndrome 4
        Cogan-Reese syndrome
        Combined molybdoflavoprotein enzyme deficiency
        Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
        Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
        Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
        Complex regional pain syndrome type 1
        Complex regional pain syndrome type 2
        Congenital amegakaryocytic thrombocytopenia
        Amegakaryocytic thrombocytopenia, congenital, 2
        Congenital amegakaryocytic thrombocytopenia 1
        Congenital aniridia
        11p partial monosomy syndrome
        Isolated aniridia
        Aniridia 1
        Aniridia 2
        Aniridia 3
        Syndromic aniridia
        Aniridia - intellectual disability syndrome
        Aniridia-absent patella syndrome
        Aniridia-ptosis-intellectual disability-familial obesity syndrome
        Aniridia-renal agenesis-psychomotor retardation syndrome
        Gillespie syndrome
        Congenital bilateral aplasia of vas deferens from CFTR mutation
        Congenital defect of folate absorption
        Congenital disorder of deglycosylation
        Congenital disorder of deglycosylation 1
        Congenital disorder of deglycosylation 2
        Congenital disorder of glycosylation
        ALG1-congenital disorder of glycosylation
        ALG11-congenital disorder of glycosylation
        ALG12-congenital disorder of glycosylation
        ALG2-congenital disorder of glycosylation
        ALG3-congenital disorder of glycosylation
        ALG6-congenital disorder of glycosylation 1C
        ALG8 congenital disorder of glycosylation
        ALG9 congenital disorder of glycosylation
        B4GALT1-congenital disorder of glycosylation
        COG1 congenital disorder of glycosylation
        COG4-congenital disorder of glycosylation
        COG5-congenital disorder of glycosylation
        COG6-ongenital disorder of glycosylation
        COG7 congenital disorder of glycosylation
        COG8-congenital disorder of glycosylation
        Congenital disorder of glycosylation type 1E
        Congenital muscular dystrophy with intellectual disability and severe epilepsy
        Developmental and epileptic encephalopathy, 36
        DK1-congenital disorder of glycosylation
        DPAGT1-congenital disorder of glycosylation
        DPM3-congenital disorder of glycosylation
        Leukocyte adhesion deficiency type II
        MGAT2-congenital disorder of glycosylation
        MOGS-congenital disorder of glycosylation
        MPDU1-congenital disorder of glycosylation
        MPI-congenital disorder of glycosylation
        PGM1-congenital disorder of glycosylation
        PMM2-congenital disorder of glycosylation
        RFT1-congenital disorder of glycosylation
        SLC35A1-congenital disorder of glycosylation
        SRD5A3-congenital disorder of glycosylation
        Congenital dyserythropoietic anemia
        Congenital dyserythropoietic anemia type 4
        Congenital dyserythropoietic anemia, type I
        Anemia, congenital dyserythropoietic, type 1a
        Congenital dyserythropoietic anemia type type 1B
        Congenital dyserythropoietic anemia, type II
        Congenital dyserythropoietic anemia, type III
        Thrombocytopenia with congenital dyserythropoietic anemia
        Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
        X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
        Congenital generalized lipodystrophy
        Congenital generalized lipodystrophy type 1
        Congenital generalized lipodystrophy type 2
        Congenital generalized lipodystrophy type 3
        Congenital generalized lipodystrophy type 4
        Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
        Congenital multicore myopathy with external ophthalmoplegia
        Congenital myasthenic syndrome
        CHRNA1-Related Congenital Myasthenic Syndrome
        Congenital myasthenic syndrome 1A
        Myasthenic syndrome, congenital, 1B, fast-channel
        Congenital myasthenic syndrome 5
        Congenital myasthenic syndrome 10
        Congenital myasthenic syndrome 11
        Congenital myasthenic syndrome 12
        Congenital myasthenic syndrome 16
        Congenital myasthenic syndrome 4C
        Congenital myasthenic syndromes with glycosylation defect
        Familial infantile myasthenia
        Myasthenic syndrome, slow-channel congenital
        Postsynaptic congenital myasthenic syndrome
        Presynaptic congenital myasthenic syndrome
        Synaptic congenital myasthenic syndrome
        Congenital myopathy with fiber type disproportion
        Congenital pseudoarthrosis of the tibia
        Congenital sensory neuropathy with selective loss of small myelinated fibers
        Congenital structural myopathy
        Autosomal dominant centronuclear myopathy
        Central core myopathy
        Inborn mitochondrial myopathy
        3-Methylglutaconic aciduria type 2
        Adenosine monophosphate deaminase deficiency
        Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
        Autosomal dominant mitochondrial myopathy with exercise intolerance
        Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
        Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
        Kearns-Sayre syndrome
        Lethal infantile mitochondrial myopathy
        Maternally-inherited progressive external ophthalmoplegia
        MERRF syndrome
        Mitochondrial complex I deficiency
        Mitochondrial complex II deficiency, nuclear type 1
        Mitochondrial DNA deletion syndrome with progressive myopathy
        Mitochondrial DNA depletion syndrome 11
        Mitochondrial DNA depletion syndrome, myopathic form
        Mitochondrial encephalomyopathy
        Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
        Mitochondrial myopathy-lactic acidosis-deafness syndrome
        Mitochondrial neurogastrointestinal encephalomyopathy
        Mitochondrial trifunctional protein deficiency
        Myopathy, lactic acidosis, and sideroblastic anemia
        Progressive external ophthalmoplegia
        Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
        Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
        Nemaline myopathy
        Actin accumulation myopathy
        Adult-onset nemaline myopathy
        Childhood-onset nemaline myopathy
        Congenital myopathy 23
        Congenital myopathy 4B, autosomal recessive
        Intermediate nemaline myopathy
        Nemaline myopathy 2
        Nemaline myopathy 5
        Nemaline myopathy 6
        Nemaline myopathy 7
        Nemaline myopathy 8
        Severe congenital nemaline myopathy
        Typical nemaline myopathy
        Severe X-linked myotubular myopathy
        Congenital tracheobronchomegaly
        Constriction ring syndrome
        Cortical Dysplasia-Focal Epilepsy Syndrome
        Cranioectodermal dysplasia
        Cranioectodermal dysplasia 1
        Cranioectodermal dysplasia 2
        Cranioectodermal dysplasia 3
        Cranioectodermal dysplasia 4
        Craniofacial microsomia
        Hemifacial microsomia
        Microtia
        Microtia, first degree
        Microtia, second degree
        Microtia, third degree
        Craniosynostosis syndrome
        Coronal craniosynostosis
        Bicoronal synostosis
        Unicoronal synostosis
        Craniosynostosis 2
        Craniosynostosis 4
        Bilambdoid synostosis
        Unilambdoid synostosis
        Multiple suture craniosynostosis
        Pansynostosis
        Sagittal craniosynostosis
        Squamosal suture synostosis
        TCF12-related craniosynostosis
        TWIST1-related craniosynostosis
        Crouzon syndrome
        Crouzon syndrome-acanthosis nigricans syndrome
        Isolated coronal synostosis
        Jackson-Weiss syndrome
        Muenke syndrome
        Cryopyrin associated periodic syndrome
        Chronic infantile neurological, cutaneous and articular syndrome
        F12-associated cold autoinflammatory syndrome
        Familial amyloid nephropathy with urticaria AND deafness
        Familial cold autoinflammatory syndrome
        Familial cold autoinflammatory syndrome 1
        Familial cold autoinflammatory syndrome 2
        Familial cold autoinflammatory syndrome 3
        Familial cold autoinflammatory syndrome 4
        Cryptophthalmos syndrome
        Crystal-Storing Histiocytosis
        Cutaneous porphyria
        Cystathioninuria
        Cystinuria
        Cystinuria type A
        Cystinuria type B
        Cytochrome-c oxidase deficiency
        D-Glyceric aciduria
        Dandy-Walker syndrome
        Isolated Dandy-Walker malformation with hydrocephalus
        Isolated Dandy-Walker malformation without hydrocephalus
        De Lange syndrome
        Congenital muscular hypertrophy-cerebral syndrome
        Cornelia de Lange syndrome 1
        Cornelia de Lange syndrome 3
        Cornelia de Lange syndrome 4
        Cornelia de Lange syndrome 5
        DE SANCTIS-CACCHIONE SYNDROME
        Deafness due to Connexin 26 Gene Anomaly
        Autosomal recessive nonsyndromic hearing loss 1A
        Deficiency of aromatic-L-amino-acid decarboxylase
        Deficiency of butyryl-CoA dehydrogenase
        Deficiency of hydroxymethylglutaryl-CoA lyase
        Deficiency of isobutyryl-CoA dehydrogenase
        Deficiency of mevalonate kinase
        Hyperimmunoglobulin D with periodic fever
        Mevalonic aciduria
        Deletion of long arm of chromosome 18
        Deletion of short arm of chromosome 18
        Dentatorubral-pallidoluysian atrophy
        Dentinogenesis imperfecta
        Dentinogenesis imperfecta limited to primary teeth
        Dentinogenesis imperfecta of primary and permanent teeth
        Dentinogenesis imperfecta type 2
        Dentinogenesis imperfecta type 3
        Regional odontodysplasia
        Dextrocardia
        Diaphyseal dysplasia
        Diastrophic dysplasia
        Diffuse idiopathic skeletal hyperostosis
        Digital flexor tenosynovitis
        Dihydropyrimidine dehydrogenase deficiency
        Fluoropyrimidine response
        Capecitabine response
        Fluorouracil response
        Tegafur response
        Disorder of the urea cycle metabolism
        Carbamoyl-phosphate synthetase 1 deficiency
        Citrullinemia
        Citrullinemia type I
        Citrullinemia type II
        Congenital hyperammonemia, type I
        Hyperammonemia, type III
        Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
        Hyperinsulinism-hyperammonemia syndrome
        Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
        Ornithine carbamoyltransferase deficiency
        DNA ligase IV deficiency
        Dominant hereditary optic atrophy
        Autosomal dominant optic atrophy and peripheral neuropathy
        Autosomal dominant optic atrophy classic form
        Autosomal dominant optic atrophy plus syndrome
        Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
        Optic atrophy 8
        Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
        Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
        Optic atrophy 3
        Double Y syndrome
        Drug- and Toxin-Induced Pulmonary Arterial Hypertension
        Duane retraction syndrome
        Duane retraction syndrome 2
        Duane syndrome type 1
        Dubowitz syndrome
        Dyggve-Melchior-Clausen syndrome
        Ebstein anomaly
        Ectodermal dysplasia and immune deficiency
        Ectodermal dysplasia and immunodeficiency 1
        Ectodermal dysplasia and immunodeficiency 2
        Ectrodactyly
        Split foot
        Split hand
        Split hand-foot malformation 1
        Split hand-foot malformation 3
        Split hand-foot malformation 5
        Ectromelia
        Amelia
        Amelia involving the lower limbs
        Amelia involving the upper limbs
        Amelia of lower limb
        Amelia of upper limb
        Tetraamelia
        Hemimelia
        Fibular hemimelia
        Radial hemimelia
        Tibial hemimelia
        Ulnar hemimelia
        Phocomelia
        Lower limb phocomelia
        Tetraphocomelia
        Upper limb phocomelia
        Eiken Type Chondrodysplasia
        Ellis-van Creveld syndrome
        Empty sella syndrome
        Encephalocele
        Anterior basal encephalocele
        Anterior encephalocele
        Basal encephalocele
        Ethmoidal encephalocele
        Cranium bifidum occultum
        Parietal foramina 1
        Parietal foramina 2
        Parietal foramina 3
        Frontal encephalocele
        Nasofrontal encephalocele
        Meningoencephalocele
        Occipital encephalocele
        Orbital encephalocele
        Parietal encephalocele
        Epidermolysis bullosa
        Acquired epidermolysis bullosa
        Epidermolysis bullosa dystrophica
        Epidermolysis bullosa pruriginosa
        Generalized dominant dystrophic epidermolysis bullosa
        Localized dystrophic epidermolysis bullosa
        Recessive dystrophic epidermolysis bullosa
        Recessive dystrophic epidermolysis bullosa inversa
        Recessive dystrophic epidermolysis bullosa-generalized other
        Transient bullous dermolysis of the newborn
        Epidermolysis bullosa simplex
        Epidermolysis bullosa simplex 1A, generalized severe
        Epidermolysis bullosa simplex 1C, localized
        Epidermolysis bullosa simplex with mottled pigmentation
        Epidermolysis bullosa simplex, Koebner type
        Junctional epidermolysis bullosa
        Epidermolysis Bullosa, Junctional, with Pyloric Atresia
        Generalized junctional epidermolysis bullosa non-Herlitz type
        Junctional epidermolysis bullosa gravis of Herlitz
        Junctional epidermolysis bullosa inversa
        Junctional epidermolysis bullosa with pyloric atresia
        Junctional epidermolysis bullosa, non-Herlitz type
        Laryngo-onycho-cutaneous syndrome
        Late-onset junctional epidermolysis bullosa
        Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
        Localized junctional epidermolysis bullosa, non-Herlitz type
        Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
        Epilepsy, familial focal, with variable foci 1
        Erythrokeratodermia variabilis
        Erythromelalgia
        Primary erythromelalgia
        Erythropoietic protoporphyria
        Exstrophy-epispadias complex
        Bladder exstrophy
        Supravesical Fissure of Urinary Bladder
        Cloacal exstrophy
        Epispadias
        Continent Epispadias
        Epispadias, male
        Incontinent Epispadias
        Factor V Leiden mutation
        Familial aplasia of the vermis
        Joubert syndrome 1
        Joubert syndrome 2
        Joubert syndrome 3
        Joubert syndrome 5
        Joubert syndrome 6
        Joubert syndrome 7
        Joubert syndrome 8
        Joubert syndrome 9
        Joubert syndrome 10
        Joubert syndrome 13
        Joubert syndrome 14
        Joubert syndrome 17
        Joubert syndrome with renal defect
        Familial digital arthropathy-brachydactyly
        Familial dysautonomia
        Familial episodic pain syndrome with predominantly lower limb involvement
        Familial hypokalemia-hypomagnesemia
        Familial Mediterranean fever
        Autosomal recessive familial Mediterranean fever
        Familial Mediterranean fever, autosomal dominant
        Familial partial lipodystrophy
        AKT2-related familial partial lipodystrophy
        Autosomal semi-dominant severe lipodystrophic laminopathy
        CIDEC-related familial partial lipodystrophy
        Familial partial lipodystrophy, Dunnigan type
        Familial partial lipodystrophy, Kobberling type
        LIPE-related familial partial lipodystrophy
        PLIN1-related familial partial lipodystrophy
        PPARG-related familial partial lipodystrophy
        Familial periodic paralysis
        Hyperkalemic periodic paralysis
        Hypokalemic periodic paralysis
        Hypokalemic periodic paralysis, type 1
        Hypokalemic periodic paralysis, type 2
        Periodic paralysis with later-onset distal motor neuropathy
        Periodic paralysis with transient compartment-like syndrome
        Farber lipogranulomatosis
        Fatal familial insomnia
        Feingold syndrome
        Feingold syndrome type 1
        Feingold syndrome type 2
        Felty syndrome
        Fetal akinesia deformation sequence 1
        Fibromuscular dysplasia
        Floating-Harbor syndrome
        Focal dermal hypoplasia
        Fox-Fordyce disease
        Fragile X syndrome
        Friedreich ataxia
        Friedreich ataxia 1
        Friedreich ataxia 2
        Frontonasal dysplasia
        Acromelic frontonasal dysostosis
        Craniofrontonasal dysplasia-Poland anomaly syndrome
        Craniofrontonasal syndrome
        Craniorhiny
        Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
        Frontonasal dysplasia with alopecia and genital anomaly
        Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
        Frontorhiny
        Gollop syndrome
        Oculoauriculofrontonasal syndrome
        Pai syndrome
        Six2-related frontonasal dysplasia
        Teebi hypertelorism syndrome 1
        Frontotemporal dementia
        Behavioral variant of frontotemporal dementia
        Pick disease
        Primary progressive non fluent aphasia
        Semantic dementia
        Fryns syndrome
        Fuchs endothelial dystrophy
        G6PD deficiency
        Favism
        Galloway-Mowat syndrome
        Galloway-Mowat syndrome 1
        Galloway-Mowat syndrome 3
        Galloway-Mowat syndrome 4
        Galloway-Mowat syndrome 5
        Galloway-Mowat syndrome 2, X-linked
        Gastrointestinal defect and immunodeficiency syndrome
        Gastrointestinal defects and immunodeficiency syndrome 1
        Gastrointestinal defects and immunodeficiency syndrome 2
        Gastroschisis
        Genu varum
        Wind-swept deformity of the knees
        Gerstmann-Straussler-Scheinker syndrome
        Giant axonal neuropathy
        Giant axonal neuropathy 1
        Giant axonal neuropathy 2
        Glanzmann thrombasthenia
        Glucocorticoid deficiency with achalasia
        Glutaric aciduria, type 1
        Glycogen storage disease
        Danon disease
        Fanconi-Bickel syndrome
        Glycogen phosphorylase kinase deficiency
        Glycogen storage disease due to liver phosphorylase kinase deficiency
        Glycogen storage disease IXa1
        Glycogen storage disease IXb
        Glycogen storage disease IXc
        Glycogen storage disease IXd
        Glycogen storage disease due to lactate dehydrogenase deficiency
        Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
        Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
        Glycogen storage disease due to muscle beta-enolase deficiency
        Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
        Glycogen storage disease type III
        Glycogen storage disease IIIa
        Glycogen storage disease IIIb
        Glycogen storage disease IIIc
        Glycogen storage disease IIId
        Glycogen storage disease type VIII
        Glycogen storage disease type X
        Glycogen storage disease XV
        Glycogen storage disease, type I
        Glucose-6-phosphate transport defect
        Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
        Phosphate transport defect
        Glycogen storage disease, type II
        Glycogen storage disease due to acid maltase deficiency, infantile onset
        Glycogen storage disease due to acid maltase deficiency, late-onset
        Glycogen storage disease type II, infantile
        Glycogen storage disease, type IV
        Adult polyglucosan body disease
        Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
        Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
        Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
        Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
        Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
        Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
        Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
        Glycogen storage disease, type V
        Glycogen storage disease, type VI
        HNSHA due to aldolase A deficiency
        Lethal congenital glycogen storage disease of heart
        Polyglucosan body myopathy type 1
        Polyglucosan body myopathy 1 with immunodeficiency
        Polyglucosan body myopathy 1 without immunodeficiency
        Polyglucosan body myopathy type 2
        Granulomatosis with polyangiitis
        Gray platelet syndrome
        Griscelli syndrome type 2
        GTP cyclohydrolase I deficiency
        Dystonia 5
        GTP cyclohydrolase I deficiency with hyperphenylalaninemia
        Gynatresia
        Hajdu-Cheney syndrome
        Hallermann-Streiff syndrome
        Hantavirus pulmonary syndrome
        HELLP syndrome
        Hemophagocytic lymphohistiocytosis
        Familial hemophagocytic lymphohistiocytosis
        Familial hemophagocytic lymphohistiocytosis 2
        Familial hemophagocytic lymphohistiocytosis 3
        Familial hemophagocytic lymphohistiocytosis 4
        Familial hemophagocytic lymphohistiocytosis 5
        Familial hemophagocytic lymphohistiocytosis type 1
        Recurrent Hemophagocytic Lymphohistiocytosis
        Refractory Hemophagocytic Lymphohistiocytosis
        Secondary hemophagocytic lymphohistiocytosis
        Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
        Hemophagocytic syndrome associated with an infection
        Macrophage activation syndrome
        Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
        Hemorrhagic fever-renal syndrome
        Hepatic methionine adenosyltransferase deficiency
        Hereditary acrodermatitis enteropathica
        Hereditary angioneurotic edema
        Hereditary angioedema type 1
        Hereditary angioedema type 3
        Hereditary Angioedema Types I and II
        Hereditary angioedema with C1Inh deficiency
        Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
        Hereditary angioedema with normal C1Inh
        Hereditary angioedema with normal C1inh not related to F12 or PLG variant
        PLG-related hereditary angioedema with normal C1inh
        Hereditary antithrombin deficiency
        Hereditary coproporphyria
        Hereditary fructosuria
        Hereditary hemochromatosis
        Hemochromatosis type 1
        Hemochromatosis type 3
        Hemochromatosis type 4
        Hemochromatosis type 5
        HFE-Associated Hereditary Hemochromatosis
        Juvenile hemochromatosis
        Hemochromatosis type 2A
        Hemochromatosis type 2B
        Hereditary hyperbilirubinemia
        Crigler-Najjar syndrome
        Crigler-Najjar syndrome type 1
        Crigler-Najjar syndrome, type II
        Dubin-Johnson syndrome
        Gilbert syndrome
        Hereditary insensitivity to pain with anhidrosis
        Hereditary orotic aciduria
        Hereditary persistence of fetal hemoglobin
        Hereditary sensory and autonomic neuropathy type 1
        Neuropathy, hereditary sensory and autonomic, type 1A
        Hereditary sensory and autonomic neuropathy type 7
        Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
        Heritable pulmonary arterial hypertension
        Pulmonary hypertension, primary, 1
        Pulmonary hypertension, primary, 2
        Pulmonary hypertension, primary, 3
        Pulmonary hypertension, primary, 4
        Herpes gestationis
        High molecular weight kininogen deficiency
        Holmes-Adie syndrome
        Holocarboxylase synthetase deficiency
        Holoprosencephaly sequence
        Agnathia-otocephaly complex
        Alobar holoprosencephaly
        Chromosome 1q41-q42 deletion syndrome
        Ethmocephaly
        Hartsfield-Bixler-Demyer syndrome
        Holoprosencephaly 1
        Holoprosencephaly 2
        Holoprosencephaly 3
        Holoprosencephaly 4
        Holoprosencephaly 5
        Holoprosencephaly 6
        Holoprosencephaly 7
        Holoprosencephaly 8
        Holoprosencephaly 9
        Holoprosencephaly caudal dysgenesis
        Holoprosencephaly deletion 2p
        Holoprosencephaly ectrodactyly cleft lip palate
        Holoprosencephaly radial heart renal anomalies
        Holoprosencephaly, recurrent infections, and monocytosis
        Holoprosencephaly-craniosynostosis syndrome
        Holoprosencephaly-hypokinesia-congenital contractures syndrome
        Holoprosencephaly-postaxial polydactyly syndrome
        Lambotte syndrome
        Lobar holoprosencephaly
        Midline interhemispheric variant of holoprosencephaly
        NODAL-Related Holoprosencephaly
        Semilobar holoprosencephaly
        Septopreoptic holoprosencephaly
        Syntelencephaly
        Holt-Oram syndrome
        Homocystinuria
        Arakawa syndrome 2
        Hyperhomocysteinemia
        Methylcobalamin deficiency type cblE
        Hutchinson-Gilford syndrome
        Hyaline Membrane Syndrome
        Hydroa vacciniforme
        Hydrops fetalis
        Immune hydrops fetalis
        Non-immune hydrops fetalis
        Hymenolepiasis
        HyperCKmia
        Hyperlipoproteinemia, type I
        Hyperlysinemia
        Hyperpipecolatemia
        Hypoalphalipoproteinemia
        Norum disease
        Tangier disease
        Hypohidrotic X-linked ectodermal dysplasia
        Hypoparathyroidism-retardation-dysmorphism syndrome
        Hypophosphatasia
        Adult hypophosphatasia
        Childhood hypophosphatasia
        Infantile hypophosphatasia
        Odontohypophosphatasia
        Perinatal lethal hypophosphatasia
        Prenatal benign hypophosphatasia
        Hypoplastic enamel-onycholysis-hypohidrosis syndrome
        Idiopathic Basal Ganglia Calcification
        Idiopathic basal ganglia calcification 1
        Idiopathic CD4-positive T-lymphocytopenia
        Idiopathic hypersomnia
        IgAD1
        Immunodeficiency-centromeric instability-facial anomalies syndrome 1
        Imperforate anus
        Imperforate Vagina
        Inborn glycerol kinase deficiency
        Chromosome Xp21 deletion syndrome
        Isolated glycerol kinase deficiency
        Glycerol kinase deficiency, adult form
        Glycerol kinase deficiency, juvenile form
        Incontinentia pigmenti syndrome
        Infantile cortical hyperostosis
        Infantile neuroaxonal dystrophy
        Infection by larvae of Trichinella
        Infection by Paragonimus
        Inosine triphosphatase deficiency
        Intellectual disability, autosomal dominant 1
        Intellectual disability, autosomal dominant 39
        Intellectual disability, autosomal recessive 34
        Intellectual disability, X-linked 1
        Intestinal atresia
        Atresia of small intestine
        Duodenal atresia
        Ileal atresia
        Jejunal atresia
        Congenital atresia of colon
        Congenital atresia of large intestine
        Multiple small bowel atresias
        Rectal atresia
        Iridocorneal endothelial syndrome
        Chandler syndrome
        Essential iris atrophy
        Isolated Pierre-Robin syndrome
        Jervell and Lange-Nielsen syndrome
        Jeune thoracic dystrophy
        Asphyxiating thoracic dystrophy 1
        Asphyxiating thoracic dystrophy 2
        Asphyxiating thoracic dystrophy 3
        Asphyxiating thoracic dystrophy 4
        Asphyxiating thoracic dystrophy 5
        Kabuki syndrome
        Kennedy disease
        Keratosis follicularis
        Kimura disease
        Kleefstra syndrome 1
        Kleine-Levin syndrome
        Klippel-Feil syndrome
        Isolated Klippel-Feil syndrome
        Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
        Klippel-Feil syndrome 1, autosomal dominant
        Klippel-Feil syndrome 2, autosomal recessive
        Klippel-Feil syndrome 3, autosomal dominant
        Kluver-Bucy syndrome
        Kniest dysplasia
        KSHV inflammatory cytokine syndrome
        Lafora disease
        Epilepsy, progressive myoclonic, 2b
        Myoclonic epilepsy of Lafora 1
        Landau-Kleffner syndrome
        Langer-Giedion syndrome
        Lateral medullary syndrome
        Leber congenital amaurosis
        Leber congenital amaurosis 1
        Leber congenital amaurosis 2
        Leber congenital amaurosis 3
        Leber congenital amaurosis 4
        Leber congenital amaurosis 5
        Leber congenital amaurosis 6
        Leber congenital amaurosis 7
        Leber congenital amaurosis 8
        Leber congenital amaurosis 9
        Leber congenital amaurosis 10
        Leber congenital amaurosis 11
        Leber congenital amaurosis 12
        Leber congenital amaurosis 13
        Leber congenital amaurosis 14
        Leber congenital amaurosis 15
        Leber congenital amaurosis 16
        Leber optic atrophy
        Legg-Calve-Perthes disease
        Leigh syndrome
        Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
        Leigh Syndrome (nuclear DNA mutation)
        Leigh syndrome due to mitochondrial complex I deficiency
        Leigh syndrome due to mitochondrial complex II deficiency
        Leigh syndrome due to mitochondrial complex III deficiency
        Leigh syndrome due to mitochondrial complex V deficiency
        Leigh syndrome with cardiomyopathy
        Leigh syndrome with leukodystrophy
        Maternally-inherited Leigh syndrome
        Necrotizing encephalomyelopathy, subacute, of Leigh, adult
        Pyruvate carboxylase deficiency
        Pyruvate carboxylase deficiency, benign type
        Pyruvate carboxylase deficiency, infantile form
        Pyruvate carboxylase deficiency, severe neonatal type
        Pyruvate dehydrogenase complex deficiency
        Pyruvate dehydrogenase E1-alpha deficiency
        Pyruvate dehydrogenase E1-beta deficiency
        Pyruvate dehydrogenase E2 deficiency
        Pyruvate dehydrogenase E3 deficiency
        Pyruvate dehydrogenase E3-binding protein deficiency
        Pyruvate dehydrogenase phosphatase deficiency
        Lennox-Gastaut syndrome
        Leprechaunism syndrome
        Leprosy
        Multibacillary leprosy
        Lepromatous leprosy
        Paucibacillary leprosy
        Borderline leprosy
        Tuberculoid leprosy
        Leptospirosis
        Weil disease
        Leri-Weill dyschondrosteosis
        Lesch-Nyhan syndrome
        Leukodystrophy
        Adrenoleukodystrophy
        Adrenomyeloneuropathy
        Cerebral Adrenoleukodystrophy
        X-linked cerebral adrenoleukodystrophy
        Adult-onset autosomal dominant demyelinating leukodystrophy
        Aicardi Goutieres syndrome
        Aicardi-Goutieres syndrome 1
        Aicardi-Goutieres syndrome 2
        Aicardi-Goutieres syndrome 3
        Aicardi-Goutieres syndrome 4
        Aicardi-Goutieres syndrome 5
        Aicardi-Goutieres syndrome 6
        Alexander disease
        Alexander disease type I
        Alexander disease type II
        Alkaline ceramidase 3 deficiency
        C11orf73-related autosomal recessive hypomyelinating leukodystrophy
        CADDS
        Cavitating leukodystrophy
        Cystic leukoencephalopathy without megalencephaly
        Deficiency of ribose-5-phosphate isomerase
        Dermatoleukodystrophy
        Dysmyelinating leukodystrophy
        Early-onset calcifying leukoencephalopathy-skeletal dysplasia
        Galactosylceramide beta-galactosidase deficiency
        Adult Krabbe disease
        Infantile Krabbe disease
        Late-infantile/juvenile Krabbe disease
        Hereditary spastic paraplegia 2
        Hypomyelinating leukodystrophy 6
        Hypomyelinating leukodystrophy 9
        Hypomyelinating leukodystrophy 12
        Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
        Hypomyelination and Congenital Cataract
        Hypomyelination with brain stem and spinal cord involvement and leg spasticity
        Leukoencephalopathy with bilateral anterior temporal lobe cysts
        Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
        Leukoencephalopathy with mild cerebellar ataxia and white matter edema
        Leukoencephalopathy, diffuse hereditary, with spheroids 1
        Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
        Megalencephalic leukoencephalopathy with subcortical cysts
        Megalencephalic leukoencephalopathy with subcortical cysts 1
        Megalencephalic leukoencephalopathy with subcortical cysts 2A
        Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
        Metachromatic leukodystrophy
        Metachromatic leukodystrophy, adult type
        Metachromatic leukodystrophy, juvenile type
        Metachromatic leukodystrophy, late infantile form
        Multiple mitochondrial dysfunctions syndrome 4
        Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
        Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
        PCWH syndrome
        Pelizaeus Merzbacher like disease
        Hypomyelinating leukodystrophy 2
        Hypomyelinating leukodystrophy 3
        Hypomyelinating leukodystrophy 4
        Pelizaeus-Merzbacher disease
        Null syndrome
        Pelizaeus-Merzbacher disease in female carriers
        Pelizaeus-Merzbacher disease, classic form
        Pelizaeus-Merzbacher disease, connatal form
        Pelizaeus-Merzbacher disease, transitional form
        Peroxisome biogenesis disorder
        Peroxisome biogenesis disorder 1A (Zellweger)
        Peroxisome Biogenesis Disorder 1B
        Peroxisome biogenesis disorder 2A (Zellweger)
        Peroxisome biogenesis disorder 2B
        Peroxisome biogenesis disorder 3A (Zellweger)
        Peroxisome biogenesis disorder 4A (Zellweger)
        Peroxisome biogenesis disorder 4B
        Peroxisome biogenesis disorder 5A (Zellweger)
        Peroxisome biogenesis disorder 5B
        Peroxisome biogenesis disorder 6A (Zellweger)
        Peroxisome biogenesis disorder 6B
        Peroxisome biogenesis disorder 7A (Zellweger)
        Peroxisome biogenesis disorder 7B
        Peroxisome biogenesis disorder 8A (Zellweger)
        Peroxisome biogenesis disorder 8B
        Peroxisome biogenesis disorder type 3B
        Peroxisome Biogenesis Disorders in the Zellweger Spectrum
        Zellweger spectrum disorders
        Phytanic acid storage disease
        Pol III-related leukodystrophy
        Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
        Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
        Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
        Odontoleukodystrophy
        Tremor-ataxia-central hypomyelination syndrome
        Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
        Progressive cavitating leukoencephalopathy
        Progressive encephalopathy with leukodystrophy due to DECR deficiency
        Ravine syndrome
        Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
        Spondyloepimetaphyseal dysplasia, Bieganski type
        Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
        Spongy degeneration of central nervous system
        Mild Canavan disease
        Severe Canavan disease
        Sterol carrier protein 2 deficiency
        Vanishing white matter disease
        Congenital or early infantile CACH syndrome
        Juvenile or adult CACH syndrome
        Late infantile CACH syndrome
        Leukoencephalopathy with vanishing white matter 1
        Leukoencephalopathy with vanishing white matter 2
        Leukoencephalopathy with vanishing white matter 3
        Leukoencephalopathy with vanishing white matter 4
        Leukoencephalopathy with vanishing white matter 5
        Ovarioleukodystrophy
        Liddle syndrome
        Lipase deficiency, combined
        Lipid proteinosis
        Lipomatosis dolorosa
        Lissencephaly
        2-3-layered lissencephaly
        6-layered lissencephaly
        Agyria
        Classic lissencephaly
        Isolated lissencephaly type 1 without known genetic defect
        Lissencephaly 9 with complex brainstem malformation
        Lissencephaly due to LIS1 mutation
        Lissencephaly type 1 due to doublecortin gene mutation
        Miller Dieker syndrome
        Classical Lissencephalies and Subcortical Band Heterotopias
        Cobblestone lissencephaly
        Cobblestone lissencephaly without muscular or ocular involvement
        Focal lissencephaly
        Lissencephaly due to TUBA1A mutation
        Lissencephaly type 3
        Lissencephaly type 3-familial fetal akinesia sequence syndrome
        Lissencephaly type 3-metacarpal bone dysplasia syndrome
        Neu-Laxova syndrome
        Microlissencephaly
        Norman-Roberts syndrome
        Pachygyria
        Pachygyria with 5-10 mm cortical thickness
        Thick pachygyria
        Unlayered lissencephaly
        X-linked lissencephaly with abnormal genitalia
        Loeys-Dietz syndrome
        Aneurysm-osteoarthritis syndrome
        Loeys-Dietz syndrome 1
        Loeys-Dietz syndrome 2
        Loeys-Dietz syndrome 4
        Loeys-Dietz Syndrome Type 1
        Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
        Long chain acyl-CoA dehydrogenase deficiency
        Lowe syndrome
        Lysinuric protein intolerance
        Lysosomal storage disease
        Acid phosphatase deficiency
        Aspartylglucosaminuria
        Cholesteryl ester storage disease
        Wolman disease
        Combined deficiency of sialidase AND beta galactosidase
        Cystinosis
        Infantile nephropathic cystinosis
        Juvenile nephropathic cystinosis
        Nephropathic cystinosis
        Ocular cystinosis
        Fabry disease
        Fucosidosis
        Gaucher disease
        Gaucher disease due to saposin C deficiency
        Gaucher disease perinatal lethal
        Gaucher disease type 3A
        Gaucher disease type 3B
        Gaucher disease type I
        Gaucher disease type II
        Gaucher disease type III
        Gaucher disease, Norrbottnian type
        Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
        GM1 gangliosidosis
        GM1 gangliosidosis type 2
        GM1 gangliosidosis type 3
        Infantile GM1 gangliosidosis
        Hereditary spastic paraplegia 48
        Lysosomal Storage Diseases, Nervous System
        Mucolipidosis
        Sialuria
        Sphingolipidosis
        Mannosidosis
        Beta-D-mannosidosis
        Deficiency of alpha-mannosidase
        Mucopolysaccharidosis
        Deficiency of hyaluronoglucosaminidase
        Morquio syndrome
        Mucopolysaccharidosis type 1
        Mucopolysaccharidosis type 6
        Mucopolysaccharidosis type 7
        Mucopolysaccharidosis, MPS-II
        Sanfilippo syndrome
        Multiple sulfatase deficiency
        Pyknodysostosis
        Sandhoff disease
        Sandhoff disease, adult form
        Sandhoff disease, infantile form
        Sandhoff disease, juvenile form
        Sphingomyelin/cholesterol lipidosis
        Acid sphingomyelinase deficiency
        Chronic neurovisceral acid sphingomyelinase deficiency
        Niemann-Pick disease type E
        Niemann-Pick disease, type A
        Niemann-Pick disease, type B
        Niemann-Pick disease, type C
        Tay-Sachs disease, variant AB
        Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
        Epstein Syndrome
        Fechtner Syndrome
        May-Hegglin Anomaly
        MYH9-related disorder
        Malakoplakia
        Malformation of cortical development
        Abnormality of neuronal migration
        Gray matter heterotopia
        Periventricular nodular heterotopia
        Malformations of Cortical Development, Group I
        Isolated congenital microcephaly
        Megalencephaly
        Tuberous sclerosis syndrome
        Malformations of Cortical Development, Group III
        Polymicrogyria
        Porencephaly
        Schizencephaly
        Subcortical band heterotopia
        Anterior predominant subcortical band heterotopia
        Diffuse subcortical band heterotopia
        Posterior predominant subcortical band heterotopia
        Malignant atrophic papulosis
        Malignant hyperthermia of anesthesia
        Malignant migrating partial seizures of infancy
        Mallory-Weiss syndrome
        Mandibuloacral dysplasia with type A lipodystrophy
        Mansonelliasis
        Maple syrup urine disease
        Classical maple syrup urine disease
        Intermediate maple syrup urine disease
        Intermittent maple syrup urine disease
        Maple syrup urine disease type 2
        Maple syrup urine disease type 1A
        Maple syrup urine disease type 1B
        Maple syrup urine disease, thiamine-responsive, type II
        Thiamine-responsive maple syrup urine disease
        Marburg virus disease
        Marfan syndrome
        Loeys-Dietz Syndrome Type 2
        Marshall syndrome
        MASA syndrome
        Mayer-Rokitansky-Kuster-Hauser syndrome
        Mayer-Rokitansky-Küster-Hauser syndrome type 2
        Rokitansky sequence
        Meckel-Gruber syndrome
        Meckel syndrome, type 1
        Meckel syndrome, type 2
        Meckel syndrome, type 3
        Meckel syndrome, type 4
        Meckel syndrome, type 5
        Meckel syndrome, type 6
        Meckel syndrome, type 8
        Meckel syndrome, type 9
        Meckel syndrome, type 10
        NPHP3-related Meckel-like syndrome
        Medium-chain acyl-coenzyme A dehydrogenase deficiency
        Meesmann corneal dystrophy
        Corneal dystrophy, Meesmann, 1
        Corneal dystrophy, Meesmann, 2
        Megacystis, microcolon, hypoperistalsis syndrome
        Hereditary hollow viscus myopathy
        Visceral myopathy 1
        Melkersson-Rosenthal syndrome
        Mendelian susceptibility to mycobacterial disease
        Menkes kinky-hair syndrome
        Mental Retardation, Autosomal Dominant 40
        Mental Retardation, X-linked 102
        Metaphyseal chondrodysplasia, Jansen type
        Metaphyseal chondrodysplasia, McKusick type
        Metatropic dysplasia
        Methylmalonic acidemia
        Cobalamin C disease
        Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
        Methylmalonic aciduria and homocystinuria type cblD
        Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
        Vitamin B12-unresponsive methylmalonic acidemia type mut-
        Vitamin B12-unresponsive methylmalonic acidemia type mut0
        Methylmalonic aciduria, cblA type
        Methylmalonic aciduria, cblB type
        Microcephaly and chorioretinopathy 1
        Mitochondrial DNA depletion syndrome 12
        Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
        Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
        Mitochondrial DNA depletion syndrome 13
        Mitochondrially Inherited Nonsyndromic Sensorineural Deafness
        Mixed connective tissue disease
        Mosaic trisomy 14
        Mowat-Wilson syndrome
        Mowat-Wilson syndrome due to a ZEB2 point mutation
        Mowat-Wilson syndrome due to monosomy 2q22
        Moyamoya disease
        Mucous membrane pemphigoid
        Ocular cicatricial pemphigoid
        Mulibrey nanism syndrome
        Mullerian inhibiting factor deficiency
        Multicentric carpo-tarsal osteolysis with or without nephropathy
        Multicentric osteolysis nodulosis arthropathy spectrum
        Multicentric osteolysis, nodulosis, and arthropathy
        Winchester syndrome
        Multiple acyl-CoA dehydrogenase deficiency
        Multiple acyl-CoA dehydrogenase deficiency, mild type
        Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
        Multiple system atrophy
        Multiple system atrophy, cerebellar type
        Multiple system atrophy, parkinsonian type
        Olivopontocerebellar atrophy
        Shy Drager Syndrome
        Striatonigral degeneration
        Myhre syndrome
        Myokymia
        Eyelid myokymia
        Facial myokymia
        Myositis disease
        Idiopathic granulomatous myositis
        Inclusion body myositis
        Infectious myositis
        Myositis fibrosa
        Myositis ossificans
        Orbital myositis
        Polymyositis
        Dermatomyositis
        Juvenile polymyositis
        Pyomyositis
        Myotonic syndrome
        Batten-Turner congenital myopathy
        Congenital myotonia, autosomal dominant form
        Congenital myotonia, autosomal recessive form
        Non dystrophic myotonia
        Familial normokalemic periodic paralysis
        Laryngospasm, severe neonatal episodic
        Paramyotonia congenita of Von Eulenburg
        Potassium-aggravated myotonia
        NADH Dehydrogenase Deficiency
        Nail-patella syndrome
        Nelson Syndrome
        Neonatal pseudo-hydrocephalic progeroid syndrome
        Neonatal-onset encephalopathy with rigidity and seizures
        Nephrocalcinosis
        Cortical nephrocalcinosis
        Medullary nephrocalcinosis
        Microscopic nephrocalcinosis
        Nephrogenic fibrosing dermopathy
        Neural tube defect
        Cephalocele
        Atretic occipital cephalocele
        Isolated encephalocele
        Closed neural tube defect
        Dermal sinus tract
        Lipomyelomeningocele
        Meningocele
        Myelopathy
        Congenital meningocele
        Congenital cerebral meningocele
        Congenital spinal meningocele
        Craniorachischisis
        Holorachischisis
        Iniencephaly
        Closed iniencephaly
        Open iniencephaly
        Meningohydroencephalocele
        Myelomeningocele
        Cervical meningomyelocele
        Cervical spina bifida cystica
        Cervicothoracic spina bifida cystica
        Lumbar meningomyelocele
        Lumbosacral spina bifida cystica
        Sacral meningocele
        Thoracic meningomyelocele
        Thoracolumbosacral spina bifida cystica
        Total spina bifida cystica
        Upper thoracic spina bifida cystica
        Neural tube defects, susceptibility to
        Open neural tube defect
        Exencephaly
        Myeloschisis
        Pentalogy of Cantrell
        Spina bifida
        Cervical spina bifida
        Spina bifida cystica
        Spina bifida occulta
        Spinal dysraphism
        Neurodegeneration with brain iron accumulation 4
        Neurodegeneration with brain iron accumulation 5
        Neuromyelitis optica
        Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
        Neuromyelitis optica spectrum disorder with anti-MOG antibodies
        Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
        Neuronal intranuclear inclusion disease
        Neutral 1 amino acid transport defect
        Non-ketotic hyperglycinemia
        Atypical glycine encephalopathy
        Infantile glycine encephalopathy
        Neonatal glycine encephalopathy
        Non-Trisomic Autosomal Aneuploidy
        Noonan syndrome with multiple lentigines
        LEOPARD syndrome 1
        LEOPARD syndrome 2
        LEOPARD syndrome 3
        Ochronosis disorder
        Optic neuropathy
        Nonarteritic anterior ischemic optic neuropathy
        Optic neuritis
        Retrobulbar optic neuritis
        Ornithine aminotransferase deficiency
        Orofacial cleft 1
        Orofaciodigital syndrome I
        Orofaciodigital syndrome type 6
        Oromandibular-limb hypogenesis spectrum
        Ossification of posterior longitudinal ligament
        Osteochondrodysplasia
        Achondroplasia
        Thanatophoric dysplasia
        Chondrodysplasia Blomstrand type
        Desbuquois syndrome
        Enchondromatosis
        FGFR3 Chondrodysplasia
        Fibrous dysplasia
        Craniofacial Fibrous Dysplasia
        Fibrous dysplasia of jaw
        Monostotic fibrous dysplasia
        Polyostotic fibrous dysplasia of bone
        Hyperostosis interna frontalis
        Hypochondroplasia
        Increased bone mineral density
        Bone-in-a-bone appearance of carpal bones
        Clavicular sclerosis
        Cortical sclerosis
        Generalized osteosclerosis
        Increased bone density with cystic changes
        Increased skull ossification
        Ivory epiphyses of the metacarpals
        Metacarpal diaphyseal endosteal sclerosis
        Osteopetrosis
        Osteopoikilosis
        Patchy osteosclerosis
        Sclerosis of foot bone
        Sclerosis of hand bone
        Sclerosis of skull base
        Sclerotic scapulae
        Kashin-Beck disease
        Mesomelic dysplasia
        Langer mesomelic dysplasia syndrome
        Osteochondroma
        Multiple Osteochondromas
        Solitary Osteochondroma
        Osteogenesis imperfecta
        Osteogenesis imperfecta type 5
        Osteogenesis imperfecta type 6
        Osteogenesis imperfecta type 7
        Osteogenesis imperfecta type 8
        Osteogenesis imperfecta type 9
        Osteogenesis imperfecta type 10
        Osteogenesis imperfecta type 11
        Osteogenesis imperfecta type 12
        Osteogenesis imperfecta type I
        Osteogenesis imperfecta type III
        Osteogenesis imperfecta with normal sclerae, dominant form
        Osteogenesis imperfecta, perinatal lethal
        Osteogenesis imperfecta, type 19
        SAPHO syndrome
        Short rib-polydactyly syndrome
        Joubert syndrome with Jeune asphyxiating thoracic dystrophy
        Short rib-polydactyly syndrome, Majewski type
        Short-rib thoracic dysplasia 6 with or without polydactyly
        Short-rib thoracic dysplasia 7 with or without polydactyly
        Type IV short rib polydactyly syndrome
        Slipped femoral capital epiphyses
        Osteopetrosis with renal tubular acidosis
        Oto-palato-digital syndrome, type I
        Pachydermoperiostosis syndrome
        Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
        Pachyonychia congenita syndrome
        Pachyonychia congenita 1
        Pachyonychia congenita 2
        Pachyonychia congenita 3
        Pachyonychia congenita 4
        Steatocystoma multiplex
        Pain agnosia
        Pallister-Hall syndrome
        Pallister-Killian syndrome
        Pancreatic triacylglycerol lipase deficiency
        Panuveitis
        Anterior uveitis
        Acute anterior uveitis
        Behcet disease
        Idiopathic anterior uveitis
        Infectious anterior uveitis
        Iridocyclitis
        Iritis
        Idiopathic panuveitis
        Idiopathic uveal effusion syndrome
        Infectious panuveitis
        Posterior uveitis
        Choroiditis
        White dot syndrome
        Sympathetic ophthalmia
        Vogt-Koyanagi-Harada disease
        Papillon-Lefèvre syndrome
        Parana hard-skin syndrome
        Paroxysmal extreme pain disorder
        Pearson syndrome
        Pelger-Huët anomaly
        Peritoneal Panniculitis
        Persistent fetal circulation syndrome
        Alveolar capillary dysplasia with pulmonary venous misalignment
        Peters plus syndrome
        Pettigrew syndrome
        Phelan-McDermid syndrome
        Phosphoenolpyruvate carboxykinase (GTP) deficiency
        Pigmentary pallidal degeneration
        Atypical pantothenate kinase-associated neurodegeneration
        Classic pantothenate kinase-associated neurodegeneration
        PIK3CA related overgrowth syndrome
        CLOVES syndrome
        Congenital infiltrating lipomatosis of the face
        Hemihyperplasia-multiple lipomatosis syndrome
        Hemimegalencephaly
        Megalencephaly-capillary malformation-polymicrogyria syndrome
        Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
        PIK3R1 Deficiency
        Pinta disease
        Piriformis syndrome
        Pityriasis lichenoides
        Acute lichenoid pityriasis
        Pityriasis rubra pilaris
        Plague
        Plasma Kallikrein Deficiency
        Platelet-type bleeding disorder 17
        Plummer-Vinson syndrome
        Poikiloderma with neutropenia
        Poland anomaly
        POLG-Related Spectrum Disorders
        Popliteal pterygium syndrome
        Autosomal dominant popliteal pterygium syndrome
        Bartsocas-Papas syndrome 1
        Porphobilinogen synthase deficiency
        Porphyria cutanea tarda
        Familial porphyria cutanea tarda
        Hepatoerythropoietic porphyria
        Sporadic porphyria cutanea tarda
        Potocki-Lupski syndrome
        Potocki-Shaffer syndrome
        Prekallikrein deficiency
        Inherited prekallikrein deficiency
        Primary ciliary dyskinesia
        Ciliary dyskinesia, primary, 36, X-linked
        Ciliary dyskinesia, primary, 37
        Ciliary dyskinesia, primary, 38
        Kartagener syndrome
        Primary ciliary dyskinesia 2
        Primary ciliary dyskinesia 3
        Primary ciliary dyskinesia 4
        Primary ciliary dyskinesia 5
        Primary ciliary dyskinesia 6
        Primary ciliary dyskinesia 7
        Primary ciliary dyskinesia 8
        Primary ciliary dyskinesia 9
        Primary ciliary dyskinesia 10
        Primary ciliary dyskinesia 11
        Primary ciliary dyskinesia 12
        Primary ciliary dyskinesia 13
        Primary ciliary dyskinesia 14
        Primary ciliary dyskinesia 15
        Primary ciliary dyskinesia 16
        Primary ciliary dyskinesia 17
        Primary ciliary dyskinesia 18
        Primary ciliary dyskinesia 19
        Primary ciliary dyskinesia 20
        Primary ciliary dyskinesia 21
        Primary ciliary dyskinesia 22
        Primary ciliary dyskinesia 23
        Primary ciliary dyskinesia 24
        Primary ciliary dyskinesia 25
        Primary ciliary dyskinesia 26
        Primary ciliary dyskinesia 27
        Primary ciliary dyskinesia 28
        Primary ciliary dyskinesia 29
        Primary ciliary dyskinesia 30
        Primary ciliary dyskinesia 32
        Primary ciliary dyskinesia 33
        Primary ciliary dyskinesia 34
        Primary ciliary dyskinesia 35
        Stromme syndrome
        Primary familial hypertrophic cardiomyopathy
        Cardiomyopathy, familial hypertrophic 27
        Cardiomyopathy, hypertrophic, midventricular, digenic
        Hypertrophic cardiomyopathy 1
        Hypertrophic cardiomyopathy 2
        Hypertrophic cardiomyopathy 3
        Hypertrophic cardiomyopathy 4
        Hypertrophic cardiomyopathy 6
        Hypertrophic cardiomyopathy 7
        Hypertrophic cardiomyopathy 8
        Hypertrophic cardiomyopathy 9
        Hypertrophic cardiomyopathy 10
        Hypertrophic cardiomyopathy 11
        Hypertrophic cardiomyopathy 12
        Hypertrophic cardiomyopathy 13
        Hypertrophic cardiomyopathy 14
        Hypertrophic cardiomyopathy 15
        Hypertrophic cardiomyopathy 16
        Hypertrophic cardiomyopathy 17
        Hypertrophic cardiomyopathy 18
        Hypertrophic cardiomyopathy 19
        Hypertrophic cardiomyopathy 20
        Hypertrophic cardiomyopathy 21
        Hypertrophic cardiomyopathy 26
        Primary lateral sclerosis
        Primary progressive aphasia
        Logopenic progressive aphasia
        Progressive bulbar palsy
        Brown-Vialetto-van Laere syndrome 1
        Progressive muscular atrophy
        Progressive myositis ossificans
        Progressive supranuclear palsy
        Atypical progressive supranuclear palsy syndrome
        Supranuclear palsy, progressive, 1
        Supranuclear palsy, progressive, 2
        Supranuclear palsy, progressive, 3
        Prolidase deficiency
        Proteus syndrome
        Prune belly syndrome
        Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
        Pseudoexfoliation glaucoma
        Pseudohermaphroditism
        Pseudohypoaldosteronism
        Pseudohypoaldosteronism type 1
        Autosomal dominant pseudohypoaldosteronism type 1
        Autosomal recessive pseudohypoaldosteronism type 1
        Pseudohypoaldosteronism, type 2
        Pseudohypoaldosteronism type 2A
        Pseudohypoaldosteronism type 2B
        Pseudohypoaldosteronism type 2C
        Pseudohypoaldosteronism type 2D
        Pseudohypoaldosteronism type 2E
        Transient pseudohypoaldosteronism
        Pseudohypoparathyroidism type I A
        Pseudopseudohypoparathyroidism
        Pseudoxanthoma elasticum
        Acquired pseudoxanthoma elasticum
        Inherited pseudoxanthoma elasticum
        Autosomal recessive inherited pseudoxanthoma elasticum
        Pseudoxanthoma elasticum, forme fruste
        Radial aplasia-thrombocytopenia syndrome
        Relapsing polychondritis
        Renal carnitine transport defect
        Retinoschisis
        Foveoschisis
        Rett syndrome
        Rett syndrome, congenital variant
        Severe neonatal-onset encephalopathy with microcephaly
        Rhizomelic dysplasia
        Rippling muscle disease 2
        Roberts-SC phocomelia syndrome
        Roberts syndrome
        SC phocomelia syndrome
        Robinow syndrome
        Autosomal dominant Robinow syndrome
        Autosomal recessive Robinow syndrome
        Russell-Silver syndrome
        Silver-Russell syndrome 1
        Silver-Russell syndrome due to an imprinting defect of 11p15
        Silver-russell syndrome 2
        Silver-Russell syndrome 3
        Silver-russell syndrome 4
        Silver-Russell syndrome 5
        Silver-Russell syndrome due to 11p15 microduplication
        Silver-Russell syndrome due to 7p11.2p13 microduplication
        Silver-Russell syndrome due to a point mutation
        Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
        Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
        Schilder disease
        Schimke immuno-osseous dysplasia
        Schinzel-Giedion syndrome
        Scimitar syndrome
        Scleredema
        Scleromyxedema
        Sclerosteosis
        Sclerosteosis 1
        Sclerosteosis 2
        Sea-blue histiocyte syndrome
        Seckel syndrome
        Selective Antibody Deficiency with Normal Immunoglobulins
        Septo-optic dysplasia sequence
        Short Stature Homeobox Deficiency
        Shprintzen-Goldberg syndrome
        Sitosterolemia
        Situs inversus with levocardia
        Sjögren-Larsson syndrome
        Smith-Lemli-Opitz syndrome
        Smith-Magenis syndrome
        Sotos syndrome
        Spasmodic torticollis
        Spinal muscular atrophy
        Acute infantile spinal muscular atrophy
        Kugelberg-Welander disease
        Progressive spinal muscular atrophy
        Proximal spinal muscular atrophy
        Spinal muscular atrophy, type II
        Spinal muscular atrophy, type IV
        Werdnig-Hoffmann disease
        Spinal Muscular Atrophy of Childhood
        Spinal muscular atrophy, segmental
        Sponastrime dysplasia
        Spondyloepimetaphyseal dysplasia with multiple dislocations
        Spondyloperipheral dysplasia
        Staphylococcal scalded skin syndrome
        Stargardt disease
        Severe early-childhood-onset retinal dystrophy
        Stargardt disease 3
        Stargardt disease 4
        STAT3-related early-onset multisystem autoimmune disease
        Status epilepticus
        Epilepsia partialis continua
        Refractory status epilepticus
        Super-refractory status epilepticus
        Status epilepticus with prominent motor symptoms
        Convulsive status epilepticus
        Focal motor status epilepticus
        Hyperkinetic status epilepticus
        Myoclonic status epilepticus
        Tonic status epilepticus
        Status epilepticus without prominent motor symptoms
        Non-convulsive status epilepticus with coma
        Non-convulsive status epilepticus without coma
        Stickler syndrome
        Autosomal recessive Stickler syndrome
        Otospondylomegaepiphyseal dysplasia, autosomal dominant
        Stickler syndrome type 1
        Stickler syndrome type 2
        Stickler syndrome, type 4
        Stickler syndrome, type 5
        Stiff skin syndrome
        Stiff-man syndrome
        Classic stiff person syndrome
        Focal stiff limb syndrome
        Progressive encephalomyelitis with rigidity and myoclonus
        Subacute sclerosing panencephalitis
        SUNCT syndrome
        Superior mesenteric artery syndrome
        Surfactant Protein Deficiency
        Interstitial lung disease due to ABCA3 deficiency
        Surfactant metabolism dysfunction, pulmonary, 1
        Surfactant Protein A Deficiency
        Surfactant Protein C Deficiency
        Surfactant Protein D Deficiency
        Swyer James Syndrome
        Symmetrical dyschromatosis of extremities
        Synpolydactyly
        Synpolydactyly type 1
        Synpolydactyly type 2
        Synpolydactyly type 3
        Syringomyelia
        Primary syringomyelia
        Familial syringomyelia
        Idiopathic syringomyelia
        Secondary syringomyelia
        Syringomyelia and Hydromyelia
        Takotsubo cardiomyopathy
        Tay-Sachs disease
        Juvenile (Subacute) Hexosaminidase A Deficiency
        Tay-Sachs disease, B variant, adult form
        Tay-Sachs disease, b variant, infantile form
        Tay-Sachs disease, b variant, juvenile form
        Tay-Sachs disease, B1 variant
        Tear film insufficiency
        Thoracic outlet syndrome
        Arterial thoracic outlet syndrome
        Arterial thoracic outlet syndrome due to cervical rib
        Neurogenic thoracic outlet syndrome
        Venous thoracic outlet syndrome
        Thrombocytopenia 2
        Thyroid dysgenesis
        Ectopic thyroid
        Accessory ectopic thyroid tissue
        Lingual thyroid
        Thyroid hormone resistance syndrome
        Generalized resistance to thyroid hormone
        Tissue Kallikrein Deficiency
        Togaviridae infectious disease
        Alphavirus infectious disease
        Chikungunya fever
        Encephalomyelitis, Equine
        Disease due to Rubivirus
        Rubella
        Tolosa-Hunt syndrome
        Tracheobronchomalacia
        Bronchomalacia
        Cartilaginous tracheobronchomalacia
        Excessive dynamic airway collapse
        Tracheomalacia
        Laryngotracheomalacia
        Transcobalamin II deficiency
        Transient global amnesia
        Transposition of the great arteries
        Congenital heart defects, multiple types, 6
        Congenitally corrected transposition of the great arteries
        Congenitally corrected transposition of the great arteries with ventricular septal defect
        D - transposition of the great vessels
        Dextro-looped transposition of the great arteries
        Congenitally uncorrected transposition of the great arteries with cardiac malformation
        Congenitally uncorrected transposition of the great arteries with coarctation
        Isolated congenitally uncorrected transposition of the great arteries
        Dextro-Transposition of the Great Vessels with Intact Ventricular Septum
        Dextro-Transposition of the Great Vessels with Ventricular Septal Defect
        Dextrotransposition of the great arteries
        Double outlet right ventricle
        Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
        Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
        Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
        Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
        Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
        Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis
        Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
        Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
        Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis
        Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
        Double outlet right ventricle with subpulmonary ventricular septal defect
        Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis
        Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
        Heterotaxy, visceral, 2, autosomal
        Levo-Transposition of the Great Arteries
        Levotransposition of the great arteries
        Transposition of the great arteries, dextro-looped
        Treacher Collins syndrome
        Treacher Collins syndrome 1
        Treacher Collins syndrome 2
        Treacher Collins syndrome 3
        Treacher Collins syndrome 4
        Triatrial heart
        Cor triatriatum dexter
        Cor triatriatum sinister
        Cor triatrium sinister
        Trichorhinophalangeal dysplasia type I
        Trichothiodystrophy
        Trichothiodystrophy 1, photosensitive
        Trichothiodystrophy 2, photosensitive
        Trichothiodystrophy 3, photosensitive
        Trichothiodystrophy 4, nonphotosensitive
        Trichothiodystrophy 7, nonphotosensitive
        Triploidy
        True hermaphroditism
        Tuberculosis of meninges
        Turner syndrome
        Monosomy X
        Mosaic Turner syndrome
        Turner syndrome due to structural X chromosome anomalies
        Uniparental disomy
        Angelman syndrome
        Angelman syndrome due to a point mutation
        Angelman syndrome due to imprinting defect in 15q11-q13
        Angelman syndrome due to maternal 15q11q13 deletion
        Angelman syndrome due to paternal uniparental disomy of chromosome 15
        Prader-Willi syndrome
        Prader-Willi syndrome due to imprinting mutation
        Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
        Prader-Willi syndrome due to paternal 15q11q13 deletion
        Prader-Willi syndrome due to translocation
        Uniparental heterodisomy
        Uniparental isodisomy
        Usher syndrome
        Usher syndrome type 1
        Usher syndrome type 1B
        Usher syndrome type 1C
        Usher syndrome type 1D
        Usher syndrome type 1E
        Usher syndrome type 1F
        Usher syndrome type 1G
        Usher syndrome type 1H
        Usher syndrome type 2
        Usher syndrome type 2C
        Usher syndrome type 3
        Usher syndrome type 3A
        Usher syndrome type 3B
        Van der Woude syndrome
        Van der Woude syndrome 1
        Van der Woude syndrome 2
        Variegate porphyria
        Vascular ectasia of gastric antrum
        Very long chain acyl-CoA dehydrogenase deficiency
        Visceral heterotaxy
        Heterotaxy
        Abnormality of abdominal situs
        Isomerism
        Right atrial isomerism
        Situs inversus
        Vitelliform macular dystrophy
        Adult-onset foveomacular vitelliform dystrophy
        Vitelliform macular dystrophy 1
        Vitelliform macular dystrophy 3
        Vitelliform macular dystrophy 4
        Vitelliform macular dystrophy 5
        Waardenburg syndrome
        Waardenburg syndrome type 1
        Waardenburg syndrome type 2
        Waardenburg syndrome type 2A
        Waardenburg syndrome type 2B
        Waardenburg syndrome type 2C
        Waardenburg syndrome type 2D
        Waardenburg syndrome type 2E
        Waardenburg syndrome type 3
        Waardenburg syndrome type 4A
        Wandering spleen
        Waterhouse-Friderichsen Syndrome
        Weaver syndrome
        Weill-Marchesani syndrome
        Weill-Marchesani 4 syndrome, recessive
        Weill-Marchesani syndrome 1
        Weill-Marchesani syndrome 3
        Weill-Marchesani syndrome 2, dominant
        Wernicke-Korsakoff syndrome
        Alcoholic Korsakoff syndrome
        West syndrome
        Whipple disease
        White sponge nevus
        Williams syndrome
        Wilson disease
        Wolfram syndrome
        Wolfram syndrome 1
        Wolfram syndrome 2
        Wolfram syndrome, mitochondrial form
        X-linked intellectual disability Cabezas type
        Xeroderma pigmentosum-Cockayne syndrome complex
        XXXY and XXXXY Syndrome
        YARSopathy
        Yellow nail syndrome

Professional guidelines

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Ovarian Leydig Cell Tumor and Ovarian Hyperthecosis in a Postmenopausal Woman: A Case Report and Literature Review.

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