| Disease Browser
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Parent Node:
 developmental defect during embryogenesis (MONDO:0019755) |
Parent Node:
metabolic disease (MONDO:0005066) |
..Starting node
.. developmental anomaly of metabolic origin ()
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Child Nodes:
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| ........46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency () |
| ........abetalipoproteinemia () |
| ........acquired partial lipodystrophy () |
| ........acrodermatitis enteropathica () |
| ........adult Refsum disease () |
| ........AICA-ribosiduria () |
| ........albinism-deafness syndrome () |
| ........Alstrom syndrome () |
........Amish lethal microcephaly ()  L: 00112; |
| ........AREDYLD syndrome () |
| ........arthrogryposis-renal dysfunction-cholestasis syndrome () |
| ........Arts syndrome () |
| ........Bloom syndrome () |
| ........cerebrotendinous xanthomatosis () |
| ........Charcot-Marie-Tooth disease X-linked recessive 5 () |
| ........chromosome Xp21 deletion syndrome () |
| ........classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency () |
| ........classic homocystinuria () |
| ........Cockayne syndrome () |
| ........congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency () |
| ........creatine transporter deficiency () |
| ........de Barsy syndrome () |
| ........Diamond-Blackfan anemia () |
| ........Donohue syndrome () |
| ........Fabry disease () |
| ........familial isolated deficiency of vitamin E () |
| ........familial partial lipodystrophy, Dunnigan type () |
| ........glucocorticoid resistance () |
| ........H syndrome () |
| ........Haim-Munk syndrome () |
| ........Heimler syndrome 2 () |
| ........hereditary sensory neuropathy-deafness-dementia syndrome () |
| ........hyperandrogenism () |
| ........inborn mitochondrial metabolism disorder () |
| ........juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome () |
| ........lipodystrophy-intellectual disability-deafness syndrome () |
| ........lipoid proteinosis () |
| ........mandibuloacral dysplasia () |
| ........maternal phenylketonuria () |
| ........MEDNIK syndrome () |
| ........mucosulfatidosis () |
| ........Neu-Laxova syndrome () |
| ........Nijmegen breakage syndrome () |
| ........Nijmegen breakage syndrome-like disorder () |
| ........occipital horn syndrome () |
| ........ocular albinism with late-onset sensorineural deafness () |
| ........oculocerebral hypopigmentation syndrome, Cross type () |
| ........oculocerebrorenal syndrome () |
| ........Papillon-Lefevre disease () |
| ........permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome () |
| ........PHARC syndrome () |
| ........photosensitive trichothiodystrophy () |
| ........polysyndactyly () |
| ........primary microcephaly-epilepsy-permanent neonatal diabetes syndrome () |
| ........renal cysts and diabetes syndrome () |
| ........renal tubular acidosis, distal, autosomal recessive () |
| ........Seckel syndrome 10 () |
| ........SHORT syndrome () |
| ........SLC39A8-CDG () |
| ........spinocerebellar ataxia type 38 () |
| ........SRD5A3-CDG () |
| ........SSR4-CDG () |
| ........thiamine-responsive megaloblastic anemia syndrome () |
| ........thyroid hormone resistance, generalized, autosomal recessive () |
| ........transketolase deficiency () |
| ........Wiedemann-Rautenstrauch syndrome () |
Sister Nodes: |
..acquired metabolic disease ()
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..bilirubin metabolism disease ()
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..carbohydrate metabolism disease ()
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..carotenemia ()
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..chondrocalcinosis ()
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..complement deficiency ()
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..developmental anomaly of metabolic origin ()
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..diabetic nephropathy ()
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..diabetic retinopathy ()
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..disorder of acid-base balance ()
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..disorder of glycosylation ()
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..disorder of organic acid metabolism ()
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..DNA repair disease ()
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..familial thyroid dyshormonogenesis ()
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..glucose metabolism disease ()
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..glutaric aciduria (disease) ()
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..gout ()
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..hemolytic anemia due to an erythrocyte nucleotide metabolism disorder ()
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..hyperlipidemia (disease) ()
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..hyperlipoproteinemia ()
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..hypermanganesemia with dystonia ()
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..hypertriglyceridemia (disease) ()
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..hypoalphalipoproteinemia ()
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..inborn errors of metabolism ()
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..lactic acidosis ()
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..lipodystrophy (disease) ()
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..metabolic disease with epilepsy ()
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..metabolic disease with intestinal involvement ()
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..metabolic disease with skin involvement ()
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..metabolic syndrome ()
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..mineral metabolism disease ()
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..porphyrin metabolism disease ()
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..proteostasis deficiencies ()
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..purine metabolism disease ()
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..pyrimidine metabolism disease ()
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..steroid metabolism disease ()
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..thiopurine metabolic disease ()
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..vitamin B12 deficiency ()
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..xanthinuria ()
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..xanthoma (disease) ()
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
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