MosaicBase

Disease ontology

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disease of anatomical entity
- cardiovascular system disease
  - heart disease
    - cardiomyopathy
      - intrinsic cardiomyopathy
        hypertrophic cardiomyopathy
        
        dilated cardiomyopathy
  - vascular disease
    - artery disease
      - hypertension
        pulmonary hypertension
        persistent fetal circulation syndrome
- immune system disease
  - primary immunodeficiency disease
    - phagocyte bactericidal dysfunction
      - chronic granulomatous disease
    - B cell deficiency
      - hyperimmunoglobulin syndrome
        Job's syndrome
      - agammaglobulinemia
        Bruton-type agammaglobulinemia
    - combined T cell and B cell immunodeficiency
      - severe combined immunodeficiency
        gamma chain deficiency
  - hematopoietic system disease
    - leukocyte disease
      - leukopenia
        agranulocytosis
        neutropenia
        severe congenital neutropenia
    - anemia
      - aplastic anemia
        congenital hypoplastic anemia
        Fanconi's anemia
      - normocytic anemia
        hemolytic anemia
        congenital hemolytic anemia
        congenital nonspherocytic hemolytic anemia
    - blood coagulation disease
      - thrombophilia
      - inherited blood coagulation disease
        hemophilia B
- endocrine system disease
  - gonadal disease
    - hypogonadism
      - gonadal dysgenesis
        46 XY gonadal dysgenesis
      - Kallmann syndrome
    - sex differentiation disease
      - androgen insensitivity syndrome
  - thyroid gland disease
    - hypothyroidism
      - congenital hypothyroidism
      - thyroid hormone resistance syndrome
- gastrointestinal system disease
  - intestinal disease
    - Peutz-Jeghers syndrome
    - colonic disease
      - megacolon
        Hirschsprung's disease
- musculoskeletal system disease
  - muscular disease
    - muscle tissue disease
      - distal arthrogryposis
      - myopathy
        myofibrillar myopathy 6
        
        centronuclear myopathy
        
        muscular dystrophy
        congenital muscular dystrophy
        
        Duchenne muscular dystrophy
        
        Becker muscular dystrophy
    - diaphragm disease
      - congenital diaphragmatic hernia
  - connective tissue disease
    - bone disease
      - bone remodeling disease
        rickets
        X-linked hypophosphatemic rickets
        
        osteosclerosis
        craniometaphyseal dysplasia
      - bone development disease
        dysostosis
        synostosis
        acrocephalosyndactylia
        
        craniosynostosis
        Crouzon syndrome
        
        osteochondrodysplasia
        achondroplasia
        
        osteogenesis imperfecta
        
        achondrogenesis
        achondrogenesis type II
        
        campomelic dysplasia
        
        cleidocranial dysplasia
        
        thanatophoric dysplasia
- integumentary system disease
  - skin disease
    - angioedema
      - hereditary angioedema
    - keratosis
      - keratosis follicularis
  - hair disease
    - Menkes disease
- nervous system disease
  - central nervous system disease
    - brain disease
      - prion disease
        Creutzfeldt-Jakob disease
      - epilepsy syndrome
        idiopathic generalized epilepsy
        generalized epilepsy with febrile seizures plus
        
        infantile epileptic encephalopathy
        
        electroclinical syndrome
        neonatal period electroclinical syndrome
        Ohtahara syndrome
        
        infancy electroclinical syndrome
        Dravet Syndrome
      - cerebral degeneration
        leukodystrophy
        adrenoleukodystrophy
      - migraine
        migraine with aura
        familial hemiplegic migraine
      - basal ganglia disease
        frontotemporal dementia
    - neurodegenerative disease
      - tauopathy
        Alzheimer's disease
      - hereditary ataxia
        autosomal dominant cerebellar ataxia
        hypomyelinating leukoencephalopathy
    - paraplegia
      - hereditary spastic paraplegia
  - sensory system disease
    - eye and adnexa disease
      - eye disease
        microphthalmia
        
        retinal disease
        retinal vascular disease
        exudative vitreoretinopathy
        
        retinal degeneration
        retinitis pigmentosa
  - neuropathy
    - neuromuscular disease
      - Charcot-Marie-Tooth disease
        Charcot-Marie-Tooth disease type 1
        
        Charcot-Marie-Tooth disease type X
        
        Charcot-Marie-Tooth disease type 3
        
        Charcot-Marie-Tooth disease type 4
disease of metabolism
- inherited metabolic disorder
  - metal metabolism disorder
    - pseudohypoparathyroidism
      - Albright's hereditary osteodystrophy
  - amino acid metabolic disorder
    - urea cycle disorder
      - ornithine carbamoyltransferase deficiency
    - cerebral creatine deficiency syndrome
      - creatine transporter deficiency
  - porphyria
    - acute porphyria
      - erythropoietic protoporphyria
  - lysosomal storage disease
    - Danon disease
    - mucopolysaccharidosis
      - mucopolysaccharidosis II
      - mucopolysaccharidosis I
    - lipid storage disease
      - sphingolipidosis
        Fabry disease
  - carbohydrate metabolic disorder
    - pyruvate decarboxylase deficiency
    - pyruvate carboxylase deficiency disease
  - purine-pyrimidine metabolic disorder
    - Lesch-Nyhan syndrome
  - lipid metabolism disorder
    - Barth syndrome
- acquired metabolic disease
  - carbohydrate metabolism disease
    - glucose metabolism disease
      - diabetes mellitus
        neonatal diabetes mellitus
        transient neonatal diabetes mellitus
genetic disease
- Cornelia de Lange syndrome
- chondrodysplasia punctata
  - X-linked chondrodysplasia punctata
- chromosomal disease
  - Angelman syndrome
- monogenic disease
  - X-linked disease
    - craniofrontonasal syndrome
    - Coffin-Lowry syndrome
    - focal dermal hypoplasia
    - Simpson-Golabi-Behmel syndrome
    - oculocerebrorenal syndrome
    - fragile X syndrome
    - Wiskott-Aldrich syndrome
  - autosomal genetic disease
    - autosomal dominant disease
      - polycystic kidney disease
      - Marfan syndrome
      - Townes-Brocks syndrome
      - Blau syndrome
      - tuberous sclerosis
      - branchiooculofacial syndrome
      - Aarskog-Scott syndrome
      - familial adenomatous polyposis
      - Noonan syndrome
      - Stickler syndrome
      - Treacher Collins syndrome
      - neurofibromatosis
      - pachyonychia congenita
      - trichorhinophalangeal syndrome type I
      - hereditary hemorrhagic telangiectasia
      - juvenile polyposis syndrome
      - Loeys-Dietz syndrome
      - McCune Albright syndrome
      - Costello syndrome
      - Rubinstein-Taybi syndrome
      - tarsal-carpal coalition syndrome
    - autosomal recessive disease
      - Alport syndrome
      - Aicardi-Goutieres syndrome
      - progeria
    - long QT syndrome
disease of mental health
- developmental disorder of mental health
  - specific developmental disorder
    - intellectual disability
      - syndromic intellectual disability
        Renpenning syndrome
  - pervasive developmental disorder
    - Rett syndrome
- cognitive disorder
  - psychotic disorder
    - schizophrenia
disease of cellular proliferation
- cancer
  - organ system cancer
    - respiratory system cancer
      - lung cancer
        pulmonary blastoma
        pleuropulmonary blastoma
syndrome
- Kabuki syndrome
- Kleefstra syndrome
- CHARGE syndrome
physical disorder
- Proteus syndrome
- congenital nervous system abnormality
  - periventricular nodular heterotopia
  - lissencephaly
- Pallister-Hall syndrome

Disease ontology

Select disease from the Disease Ontology tree. The description and variants will be shown below.

Select disease from the Disease Ontology tree.
The description and variants will be shown below.