Disease browser and phenotype portal

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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
..Starting node ..Homocarnosinosis (C535328)
Child Nodes:
Sister Nodes:
..2-Hydroxyglutaricaciduria (C535306)
..Cerebral Amyloid Angiopathy, Familial (D028243) 2
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..Ethylmalonic encephalopathy (C535737)
..Galactosemias (D005693)
..Hartnup Disease (D006250)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Homocarnosinosis (C535328)
..Homocystinuria (D006712) 5
..Hyperglycinemia, Nonketotic (D020158) 1
..Hyperlysinemias (D020167) 3
..Leigh Disease (D007888) 12
..Lesch-Nyhan Syndrome (D007926) 1
..Lysosomal Storage Diseases, Nervous System (D020140) 70
..Maple Syrup Urine Disease (D008375) 5
..MELAS Syndrome (D017241) 1
..Menkes Kinky Hair Syndrome (D007706) 1
..MERRF Syndrome (D017243)
..Microphthalmia and mental deficiency (C537462)
..Oculocerebrorenal Syndrome (D009800) 1
..Peroxisomal Disorders (D018901) 39
..Phenylketonurias (D010661) 8
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Silengo Lerone Pelizza syndrome (C537336)
..Tricarboxylic Acid Cycle, Defect of (C564762)
..Tyrosinemias (D020176) 1
..Urea Cycle Disorders, Inborn (D056806) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5254

Name:

Homocarnosinosis

Definition:

Alternative IDs:

OMIM:212200

ParentIDs:

MESH:D000592|MESH:D020739

TreeNumbers:

C10.228.140.163.100/C535328 |C16.320.565.100/C535328 |C16.320.565.189/C535328 |C18.452.132.100/C535328 |C18.452.648.100/C535328 |C18.452.648.189/C535328

Synonyms:

Carnosinase Deficiency |Carnosinemia |Homocarnosinase deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C535328
MeSH: C535328
OMIM: 212200;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003167	Carnosinuria
3	HP:0002123	Generalized myoclonic seizure
4	HP:0001249	Intellectual disability

Disease Causing ClinVar Variants